SNP Links for Protein (Select 567757518) - SNP

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Links from Protein

Items: 1 to 20 of 247

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Select item 14851005901.

rs1485100590 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:55541794 (GRCh38)
6:55406592 (GRCh37)
Canonical SPDI:: NC_000006.12:55541793:G:A,NC_000006.12:55541793:G:C
Gene:: HMGCLL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55541794G>A, NC_000006.12:g.55541794G>C, NC_000006.11:g.55406592G>A, NC_000006.11:g.55406592G>C, NM_019036.3:c.322C>T, NM_019036.3:c.322C>G, NM_019036.2:c.322C>T, NM_019036.2:c.322C>G, NR_109867.2:n.369C>T, NR_109867.2:n.369C>G, NR_109867.1:n.391C>T, NR_109867.1:n.391C>G, NM_001287746.2:c.-66C>T, NM_001287746.2:c.-66C>G, NM_001287746.1:c.-66C>T, NM_001287746.1:c.-66C>G, NM_001042406.2:c.232C>T, NM_001042406.2:c.232C>G, NM_001042406.1:c.232C>T, NM_001042406.1:c.232C>G, NM_001287741.2:c.232C>T, NM_001287741.2:c.232C>G, NM_001287741.1:c.232C>T, NM_001287741.1:c.232C>G, NM_001287753.2:c.232C>T, NM_001287753.2:c.232C>G, NM_001287753.1:c.232C>T, NM_001287753.1:c.232C>G, NR_109869.2:n.369C>T, NR_109869.2:n.369C>G, NR_109869.1:n.391C>T, NR_109869.1:n.391C>G, XM_047418903.1:c.-66C>T, XM_047418903.1:c.-66C>G, XM_047418902.1:c.136C>T, XM_047418902.1:c.136C>G, XM_047418904.1:c.-66C>T, XM_047418904.1:c.-66C>G, NP_061909.2:p.Leu108Phe, NP_061909.2:p.Leu108Val, NP_001035865.1:p.Leu78Phe, NP_001035865.1:p.Leu78Val, NP_001274670.1:p.Leu78Phe, NP_001274670.1:p.Leu78Val, NP_001274682.1:p.Leu78Phe, NP_001274682.1:p.Leu78Val, XP_047274858.1:p.Leu46Phe, XP_047274858.1:p.Leu46Val

Select item 14823440622.

rs1482344062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:55439490 (GRCh38)
6:55304288 (GRCh37)
Canonical SPDI:: NC_000006.12:55439489:C:T
Gene:: HMGCLL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.55439490C>T, NC_000006.11:g.55304288C>T, NM_019036.3:c.955G>A, NM_019036.2:c.955G>A, NM_001287746.2:c.568G>A, NM_001287746.1:c.568G>A, NM_001042406.2:c.865G>A, NM_001042406.1:c.865G>A, NM_001287741.2:c.769G>A, NM_001287741.1:c.769G>A, NM_001287753.2:c.556G>A, NM_001287753.1:c.556G>A, NR_109869.2:n.504G>A, NR_109869.1:n.526G>A, XM_047418903.1:c.568G>A, XM_047418902.1:c.769G>A, XM_047418904.1:c.568G>A, NP_061909.2:p.Gly319Arg, NP_001274675.1:p.Gly190Arg, NP_001035865.1:p.Gly289Arg, NP_001274670.1:p.Gly257Arg, NP_001274682.1:p.Gly186Arg, XP_047274859.1:p.Gly190Arg, XP_047274858.1:p.Gly257Arg, XP_047274860.1:p.Gly190Arg

Select item 14818933713.

rs1481893371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:55495531 (GRCh38)
6:55360329 (GRCh37)
Canonical SPDI:: NC_000006.12:55495530:C:G,NC_000006.12:55495530:C:T
Gene:: HMGCLL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
HGVS:: NC_000006.12:g.55495531C>G, NC_000006.12:g.55495531C>T, NC_000006.11:g.55360329C>G, NC_000006.11:g.55360329C>T, NM_019036.3:c.773G>C, NM_019036.3:c.773G>A, NM_019036.2:c.773G>C, NM_019036.2:c.773G>A, NM_001287746.2:c.386G>C, NM_001287746.2:c.386G>A, NM_001287746.1:c.386G>C, NM_001287746.1:c.386G>A, NM_001042406.2:c.683G>C, NM_001042406.2:c.683G>A, NM_001042406.1:c.683G>C, NM_001042406.1:c.683G>A, NM_001287741.2:c.587G>C, NM_001287741.2:c.587G>A, NM_001287741.1:c.587G>C, NM_001287741.1:c.587G>A, NM_001287753.2:c.374G>C, NM_001287753.2:c.374G>A, NM_001287753.1:c.374G>C, NM_001287753.1:c.374G>A, XM_047418903.1:c.386G>C, XM_047418903.1:c.386G>A, XM_047418902.1:c.587G>C, XM_047418902.1:c.587G>A, XM_047418904.1:c.386G>C, XM_047418904.1:c.386G>A, NP_061909.2:p.Ser258Thr, NP_061909.2:p.Ser258Asn, NP_001274675.1:p.Ser129Thr, NP_001274675.1:p.Ser129Asn, NP_001035865.1:p.Ser228Thr, NP_001035865.1:p.Ser228Asn, NP_001274670.1:p.Ser196Thr, NP_001274670.1:p.Ser196Asn, NP_001274682.1:p.Ser125Thr, NP_001274682.1:p.Ser125Asn, XP_047274859.1:p.Ser129Thr, XP_047274859.1:p.Ser129Asn, XP_047274858.1:p.Ser196Thr, XP_047274858.1:p.Ser196Asn, XP_047274860.1:p.Ser129Thr, XP_047274860.1:p.Ser129Asn

Select item 14809140644.

rs1480914064 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:55435703 (GRCh38)
6:55300501 (GRCh37)
Canonical SPDI:: NC_000006.12:55435702:T:C
Gene:: HMGCLL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.55435703T>C, NC_000006.11:g.55300501T>C, NM_019036.3:c.1072A>G, NM_019036.2:c.1072A>G, NM_001287746.2:c.685A>G, NM_001287746.1:c.685A>G, NM_001042406.2:c.982A>G, NM_001042406.1:c.982A>G, NM_001287741.2:c.886A>G, NM_001287741.1:c.886A>G, NM_001287753.2:c.673A>G, NM_001287753.1:c.673A>G, NR_109869.2:n.621A>G, NR_109869.1:n.643A>G, XM_047418903.1:c.685A>G, XM_047418902.1:c.886A>G, XM_047418904.1:c.685A>G, NP_061909.2:p.Thr358Ala, NP_001274675.1:p.Thr229Ala, NP_001035865.1:p.Thr328Ala, NP_001274670.1:p.Thr296Ala, NP_001274682.1:p.Thr225Ala, XP_047274859.1:p.Thr229Ala, XP_047274858.1:p.Thr296Ala, XP_047274860.1:p.Thr229Ala

Select item 14766417965.

rs1476641796 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:55435685 (GRCh38)
6:55300483 (GRCh37)
Canonical SPDI:: NC_000006.12:55435684:C:T
Gene:: HMGCLL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55435685C>T, NC_000006.11:g.55300483C>T, NM_019036.3:c.1090G>A, NM_019036.2:c.1090G>A, NM_001287746.2:c.703G>A, NM_001287746.1:c.703G>A, NM_001042406.2:c.1000G>A, NM_001042406.1:c.1000G>A, NM_001287741.2:c.904G>A, NM_001287741.1:c.904G>A, NM_001287753.2:c.691G>A, NM_001287753.1:c.691G>A, NR_109869.2:n.639G>A, NR_109869.1:n.661G>A, XM_047418903.1:c.703G>A, XM_047418902.1:c.904G>A, XM_047418904.1:c.703G>A, NP_061909.2:p.Ala364Thr, NP_001274675.1:p.Ala235Thr, NP_001035865.1:p.Ala334Thr, NP_001274670.1:p.Ala302Thr, NP_001274682.1:p.Ala231Thr, XP_047274859.1:p.Ala235Thr, XP_047274858.1:p.Ala302Thr, XP_047274860.1:p.Ala235Thr

Select item 14742507846.

rs1474250784 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:55495464 (GRCh38)
6:55360262 (GRCh37)
Canonical SPDI:: NC_000006.12:55495463:A:C
Gene:: HMGCLL1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.55495464A>C, NC_000006.11:g.55360262A>C, NM_019036.3:c.840T>G, NM_019036.2:c.840T>G, NM_001287746.2:c.453T>G, NM_001287746.1:c.453T>G, NM_001042406.2:c.750T>G, NM_001042406.1:c.750T>G, NM_001287741.2:c.654T>G, NM_001287741.1:c.654T>G, NM_001287753.2:c.441T>G, NM_001287753.1:c.441T>G, XM_047418903.1:c.453T>G, XM_047418902.1:c.654T>G, XM_047418904.1:c.453T>G, NP_061909.2:p.His280Gln, NP_001274675.1:p.His151Gln, NP_001035865.1:p.His250Gln, NP_001274670.1:p.His218Gln, NP_001274682.1:p.His147Gln, XP_047274859.1:p.His151Gln, XP_047274858.1:p.His218Gln, XP_047274860.1:p.His151Gln

Select item 14708388277.

rs1470838827 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:55542076 (GRCh38)
6:55406874 (GRCh37)
Canonical SPDI:: NC_000006.12:55542075:C:T
Gene:: HMGCLL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.55542076C>T, NC_000006.11:g.55406874C>T, NM_019036.3:c.263G>A, NM_019036.2:c.263G>A, NR_109867.2:n.310G>A, NR_109867.1:n.332G>A, NM_001287746.2:c.-125G>A, NM_001287746.1:c.-125G>A, NM_001042406.2:c.173G>A, NM_001042406.1:c.173G>A, NM_001287741.2:c.173G>A, NM_001287741.1:c.173G>A, NM_001287753.2:c.173G>A, NM_001287753.1:c.173G>A, NR_109869.2:n.310G>A, NR_109869.1:n.332G>A, XM_047418903.1:c.-125G>A, XM_047418902.1:c.77G>A, XM_047418904.1:c.-125G>A, NP_061909.2:p.Gly88Glu, NP_001035865.1:p.Gly58Glu, NP_001274670.1:p.Gly58Glu, NP_001274682.1:p.Gly58Glu, XP_047274858.1:p.Gly26Glu

Select item 14696150278.

rs1469615027 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:55542085 (GRCh38)
6:55406883 (GRCh37)
Canonical SPDI:: NC_000006.12:55542084:G:A
Gene:: HMGCLL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55542085G>A, NC_000006.11:g.55406883G>A, NM_019036.3:c.254C>T, NM_019036.2:c.254C>T, NR_109867.2:n.301C>T, NR_109867.1:n.323C>T, NM_001287746.2:c.-134C>T, NM_001287746.1:c.-134C>T, NM_001042406.2:c.164C>T, NM_001042406.1:c.164C>T, NM_001287741.2:c.164C>T, NM_001287741.1:c.164C>T, NM_001287753.2:c.164C>T, NM_001287753.1:c.164C>T, NR_109869.2:n.301C>T, NR_109869.1:n.323C>T, XM_047418903.1:c.-134C>T, XM_047418902.1:c.68C>T, XM_047418904.1:c.-134C>T, NP_061909.2:p.Pro85Leu, NP_001035865.1:p.Pro55Leu, NP_001274670.1:p.Pro55Leu, NP_001274682.1:p.Pro55Leu, XP_047274858.1:p.Pro23Leu

Select item 14663837149.

rs1466383714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:55578960 (GRCh38)
6:55443758 (GRCh37)
Canonical SPDI:: NC_000006.12:55578959:G:A,NC_000006.12:55578959:G:T
Gene:: HMGCLL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.55578960G>A, NC_000006.12:g.55578960G>T, NC_000006.11:g.55443758G>A, NC_000006.11:g.55443758G>T, NM_019036.3:c.96C>T, NM_019036.3:c.96C>A, NM_019036.2:c.96C>T, NM_019036.2:c.96C>A, NR_109867.2:n.233C>T, NR_109867.2:n.233C>A, NR_109867.1:n.255C>T, NR_109867.1:n.255C>A, NM_001287746.2:c.-298C>T, NM_001287746.2:c.-298C>A, NM_001287746.1:c.-298C>T, NM_001287746.1:c.-298C>A, NM_001042406.2:c.96C>T, NM_001042406.2:c.96C>A, NM_001042406.1:c.96C>T, NM_001042406.1:c.96C>A, NM_001287741.2:c.96C>T, NM_001287741.2:c.96C>A, NM_001287741.1:c.96C>T, NM_001287741.1:c.96C>A, NM_001287753.2:c.96C>T, NM_001287753.2:c.96C>A, NM_001287753.1:c.96C>T, NM_001287753.1:c.96C>A, NR_109869.2:n.233C>T, NR_109869.2:n.233C>A, NR_109869.1:n.255C>T, NR_109869.1:n.255C>A

Select item 146403981110.

rs1464039811 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:55435679 (GRCh38)
6:55300478 (GRCh37)
Canonical SPDI:: NC_000006.12:55435679:TT:TTT
Gene:: HMGCLL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.55435681dup, NC_000006.11:g.55300479dup, NM_019036.3:c.1095dup, NM_019036.2:c.1095dup, NM_001287746.2:c.708dup, NM_001287746.1:c.708dup, NM_001042406.2:c.1005dup, NM_001042406.1:c.1005dup, NM_001287741.2:c.909dup, NM_001287741.1:c.909dup, NM_001287753.2:c.696dup, NM_001287753.1:c.696dup, NR_109869.2:n.644dup, NR_109869.1:n.666dup, XM_047418903.1:c.708dup, XM_047418902.1:c.909dup, XM_047418904.1:c.708dup, NP_061909.2:p.Ala366fs, NP_001274675.1:p.Ala237fs, NP_001035865.1:p.Ala336fs, NP_001274670.1:p.Ala304fs, NP_001274682.1:p.Ala233fs, XP_047274859.1:p.Ala237fs, XP_047274858.1:p.Ala304fs, XP_047274860.1:p.Ala237fs

Select item 146369084511.

rs1463690845 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:55541803 (GRCh38)
6:55406601 (GRCh37)
Canonical SPDI:: NC_000006.12:55541802:T:A
Gene:: HMGCLL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.55541803T>A, NC_000006.11:g.55406601T>A, NM_019036.3:c.313A>T, NM_019036.2:c.313A>T, NR_109867.2:n.360A>T, NR_109867.1:n.382A>T, NM_001287746.2:c.-75A>T, NM_001287746.1:c.-75A>T, NM_001042406.2:c.223A>T, NM_001042406.1:c.223A>T, NM_001287741.2:c.223A>T, NM_001287741.1:c.223A>T, NM_001287753.2:c.223A>T, NM_001287753.1:c.223A>T, NR_109869.2:n.360A>T, NR_109869.1:n.382A>T, XM_047418903.1:c.-75A>T, XM_047418902.1:c.127A>T, XM_047418904.1:c.-75A>T, NP_061909.2:p.Ile105Phe, NP_001035865.1:p.Ile75Phe, NP_001274670.1:p.Ile75Phe, NP_001274682.1:p.Ile75Phe, XP_047274858.1:p.Ile43Phe

Select item 146298201012.

rs1462982010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:55495522 (GRCh38)
6:55360320 (GRCh37)
Canonical SPDI:: NC_000006.12:55495521:C:A,NC_000006.12:55495521:C:T
Gene:: HMGCLL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.55495522C>A, NC_000006.12:g.55495522C>T, NC_000006.11:g.55360320C>A, NC_000006.11:g.55360320C>T, NM_019036.3:c.782G>T, NM_019036.3:c.782G>A, NM_019036.2:c.782G>T, NM_019036.2:c.782G>A, NM_001287746.2:c.395G>T, NM_001287746.2:c.395G>A, NM_001287746.1:c.395G>T, NM_001287746.1:c.395G>A, NM_001042406.2:c.692G>T, NM_001042406.2:c.692G>A, NM_001042406.1:c.692G>T, NM_001042406.1:c.692G>A, NM_001287741.2:c.596G>T, NM_001287741.2:c.596G>A, NM_001287741.1:c.596G>T, NM_001287741.1:c.596G>A, NM_001287753.2:c.383G>T, NM_001287753.2:c.383G>A, NM_001287753.1:c.383G>T, NM_001287753.1:c.383G>A, XM_047418903.1:c.395G>T, XM_047418903.1:c.395G>A, XM_047418902.1:c.596G>T, XM_047418902.1:c.596G>A, XM_047418904.1:c.395G>T, XM_047418904.1:c.395G>A, NP_061909.2:p.Arg261Ile, NP_061909.2:p.Arg261Lys, NP_001274675.1:p.Arg132Ile, NP_001274675.1:p.Arg132Lys, NP_001035865.1:p.Arg231Ile, NP_001035865.1:p.Arg231Lys, NP_001274670.1:p.Arg199Ile, NP_001274670.1:p.Arg199Lys, NP_001274682.1:p.Arg128Ile, NP_001274682.1:p.Arg128Lys, XP_047274859.1:p.Arg132Ile, XP_047274859.1:p.Arg132Lys, XP_047274858.1:p.Arg199Ile, XP_047274858.1:p.Arg199Lys, XP_047274860.1:p.Arg132Ile, XP_047274860.1:p.Arg132Lys

Select item 146100789213.

rs1461007892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:55542065 (GRCh38)
6:55406863 (GRCh37)
Canonical SPDI:: NC_000006.12:55542064:C:G
Gene:: HMGCLL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.55542065C>G, NC_000006.11:g.55406863C>G, NM_019036.3:c.274G>C, NM_019036.2:c.274G>C, NR_109867.2:n.321G>C, NR_109867.1:n.343G>C, NM_001287746.2:c.-114G>C, NM_001287746.1:c.-114G>C, NM_001042406.2:c.184G>C, NM_001042406.1:c.184G>C, NM_001287741.2:c.184G>C, NM_001287741.1:c.184G>C, NM_001287753.2:c.184G>C, NM_001287753.1:c.184G>C, NR_109869.2:n.321G>C, NR_109869.1:n.343G>C, XM_047418903.1:c.-114G>C, XM_047418902.1:c.88G>C, XM_047418904.1:c.-114G>C, NP_061909.2:p.Glu92Gln, NP_001035865.1:p.Glu62Gln, NP_001274670.1:p.Glu62Gln, NP_001274682.1:p.Glu62Gln, XP_047274858.1:p.Glu30Gln

Select item 145552032014.

rs1455520320 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:55435676 (GRCh38)
6:55300474 (GRCh37)
Canonical SPDI:: NC_000006.12:55435675:A:G
Gene:: HMGCLL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.55435676A>G, NC_000006.11:g.55300474A>G, NM_019036.3:c.1099T>C, NM_019036.2:c.1099T>C, NM_001287746.2:c.712T>C, NM_001287746.1:c.712T>C, NM_001042406.2:c.1009T>C, NM_001042406.1:c.1009T>C, NM_001287741.2:c.913T>C, NM_001287741.1:c.913T>C, NM_001287753.2:c.700T>C, NM_001287753.1:c.700T>C, NR_109869.2:n.648T>C, NR_109869.1:n.670T>C, XM_047418903.1:c.712T>C, XM_047418902.1:c.913T>C, XM_047418904.1:c.712T>C, NP_061909.2:p.Ser367Pro, NP_001274675.1:p.Ser238Pro, NP_001035865.1:p.Ser337Pro, NP_001274670.1:p.Ser305Pro, NP_001274682.1:p.Ser234Pro, XP_047274859.1:p.Ser238Pro, XP_047274858.1:p.Ser305Pro, XP_047274860.1:p.Ser238Pro

Select item 145480947515.

rs1454809475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:55495484 (GRCh38)
6:55360282 (GRCh37)
Canonical SPDI:: NC_000006.12:55495483:C:T
Gene:: HMGCLL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55495484C>T, NC_000006.11:g.55360282C>T, NM_019036.3:c.820G>A, NM_019036.2:c.820G>A, NM_001287746.2:c.433G>A, NM_001287746.1:c.433G>A, NM_001042406.2:c.730G>A, NM_001042406.1:c.730G>A, NM_001287741.2:c.634G>A, NM_001287741.1:c.634G>A, NM_001287753.2:c.421G>A, NM_001287753.1:c.421G>A, XM_047418903.1:c.433G>A, XM_047418902.1:c.634G>A, XM_047418904.1:c.433G>A, NP_061909.2:p.Ala274Thr, NP_001274675.1:p.Ala145Thr, NP_001035865.1:p.Ala244Thr, NP_001274670.1:p.Ala212Thr, NP_001274682.1:p.Ala141Thr, XP_047274859.1:p.Ala145Thr, XP_047274858.1:p.Ala212Thr, XP_047274860.1:p.Ala145Thr

Select item 145425041116.

rs1454250411 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:55578973 (GRCh38)
6:55443771 (GRCh37)
Canonical SPDI:: NC_000006.12:55578972:A:C
Gene:: HMGCLL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.55578973A>C, NC_000006.11:g.55443771A>C, NM_019036.3:c.83T>G, NM_019036.2:c.83T>G, NR_109867.2:n.220T>G, NR_109867.1:n.242T>G, NM_001287746.2:c.-311T>G, NM_001287746.1:c.-311T>G, NM_001042406.2:c.83T>G, NM_001042406.1:c.83T>G, NM_001287741.2:c.83T>G, NM_001287741.1:c.83T>G, NM_001287753.2:c.83T>G, NM_001287753.1:c.83T>G, NR_109869.2:n.220T>G, NR_109869.1:n.242T>G, NP_061909.2:p.Val28Gly, NP_001035865.1:p.Val28Gly, NP_001274670.1:p.Val28Gly, NP_001274682.1:p.Val28Gly

Select item 145039675217.

rs1450396752 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:55578951 (GRCh38)
6:55443749 (GRCh37)
Canonical SPDI:: NC_000006.12:55578950:C:T
Gene:: HMGCLL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.55578951C>T, NC_000006.11:g.55443749C>T, NM_019036.3:c.105G>A, NM_019036.2:c.105G>A, NR_109867.2:n.242G>A, NR_109867.1:n.264G>A, NM_001287746.2:c.-289G>A, NM_001287746.1:c.-289G>A, NM_001042406.2:c.105G>A, NM_001042406.1:c.105G>A, NM_001287741.2:c.105G>A, NM_001287741.1:c.105G>A, NM_001287753.2:c.105G>A, NM_001287753.1:c.105G>A, NR_109869.2:n.242G>A, NR_109869.1:n.264G>A

Select item 144863419718.

rs1448634197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:55541752 (GRCh38)
6:55406550 (GRCh37)
Canonical SPDI:: NC_000006.12:55541751:C:T
Gene:: HMGCLL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55541752C>T, NC_000006.11:g.55406550C>T, NM_019036.3:c.364G>A, NM_019036.2:c.364G>A, NR_109867.2:n.411G>A, NR_109867.1:n.433G>A, NM_001287746.2:c.-24G>A, NM_001287746.1:c.-24G>A, NM_001042406.2:c.274G>A, NM_001042406.1:c.274G>A, NM_001287741.2:c.274G>A, NM_001287741.1:c.274G>A, NM_001287753.2:c.274G>A, NM_001287753.1:c.274G>A, NR_109869.2:n.411G>A, NR_109869.1:n.433G>A, XM_047418903.1:c.-24G>A, XM_047418902.1:c.178G>A, XM_047418904.1:c.-24G>A, NP_061909.2:p.Val122Met, NP_001035865.1:p.Val92Met, NP_001274670.1:p.Val92Met, NP_001274682.1:p.Val92Met, XP_047274858.1:p.Val60Met

Select item 144678464619.

rs1446784646 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 6:55542131 (GRCh38)
6:55406929 (GRCh37)
Canonical SPDI:: NC_000006.12:55542130:GGG:GG
Gene:: HMGCLL1 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55542133del, NC_000006.11:g.55406931del, NM_019036.3:c.208del, NM_019036.2:c.208del, NR_109867.2:n.255del, NR_109867.1:n.277del, NM_001287746.2:c.-180del, NM_001287746.1:c.-180del, NM_001042406.2:c.118del, NM_001042406.1:c.118del, NM_001287741.2:c.118del, NM_001287741.1:c.118del, NM_001287753.2:c.118del, NM_001287753.1:c.118del, NR_109869.2:n.255del, NR_109869.1:n.277del, XM_047418903.1:c.-180del, XM_047418902.1:c.22del, XM_047418904.1:c.-180del, NP_061909.2:p.Gln70fs, NP_001035865.1:p.Gln40fs, NP_001274670.1:p.Gln40fs, NP_001274682.1:p.Gln40fs, XP_047274858.1:p.Gln8fs

Select item 144460927320.

rs1444609273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:55495607 (GRCh38)
6:55360405 (GRCh37)
Canonical SPDI:: NC_000006.12:55495606:C:T
Gene:: HMGCLL1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.55495607C>T, NC_000006.11:g.55360405C>T, NM_019036.3:c.697G>A, NM_019036.2:c.697G>A, NM_001287746.2:c.310G>A, NM_001287746.1:c.310G>A, NM_001042406.2:c.607G>A, NM_001042406.1:c.607G>A, NM_001287741.2:c.511G>A, NM_001287741.1:c.511G>A, NM_001287753.2:c.298G>A, NM_001287753.1:c.298G>A, XM_047418903.1:c.310G>A, XM_047418902.1:c.511G>A, XM_047418904.1:c.310G>A, NP_061909.2:p.Val233Met, NP_001274675.1:p.Val104Met, NP_001035865.1:p.Val203Met, NP_001274670.1:p.Val171Met, NP_001274682.1:p.Val100Met, XP_047274859.1:p.Val104Met, XP_047274858.1:p.Val171Met, XP_047274860.1:p.Val104Met

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