SNP Links for Protein (Select 567757543) - SNP

Select item 14900993171.

rs1490099317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:55516541 (GRCh38)
6:55381339 (GRCh37)
Canonical SPDI:: NC_000006.12:55516540:G:A
Gene:: HMGCLL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000085/3 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.55516541G>A, NC_000006.11:g.55381339G>A, NM_019036.3:c.450C>T, NM_019036.2:c.450C>T, NM_001287746.2:c.63C>T, NM_001287746.1:c.63C>T, NM_001042406.2:c.360C>T, NM_001042406.1:c.360C>T, XM_047418903.1:c.63C>T, XM_047418902.1:c.264C>T, XM_047418904.1:c.63C>T

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 14640398117.

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 14629820108.

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 14555203209.

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 145480947510.

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 144460927311.

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

Select item 144276244812.

rs1442762448 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:55514105 (GRCh38)
6:55378903 (GRCh37)
Canonical SPDI:: NC_000006.12:55514104:A:C
Gene:: HMGCLL1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.55514105A>C, NC_000006.11:g.55378903A>C, NM_019036.3:c.575T>G, NM_019036.2:c.575T>G, NR_109867.2:n.526T>G, NR_109867.1:n.548T>G, NM_001287746.2:c.188T>G, NM_001287746.1:c.188T>G, NM_001042406.2:c.485T>G, NM_001042406.1:c.485T>G, NM_001287741.2:c.389T>G, NM_001287741.1:c.389T>G, XM_047418903.1:c.188T>G, XM_047418902.1:c.389T>G, XM_047418904.1:c.188T>G, NP_061909.2:p.Met192Arg, NP_001274675.1:p.Met63Arg, NP_001035865.1:p.Met162Arg, NP_001274670.1:p.Met130Arg, XP_047274859.1:p.Met63Arg, XP_047274858.1:p.Met130Arg, XP_047274860.1:p.Met63Arg

Select item 143741593313.

rs1437415933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:55514091 (GRCh38)
6:55378889 (GRCh37)
Canonical SPDI:: NC_000006.12:55514090:C:T
Gene:: HMGCLL1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55514091C>T, NC_000006.11:g.55378889C>T, NM_019036.3:c.589G>A, NM_019036.2:c.589G>A, NR_109867.2:n.540G>A, NR_109867.1:n.562G>A, NM_001287746.2:c.202G>A, NM_001287746.1:c.202G>A, NM_001042406.2:c.499G>A, NM_001042406.1:c.499G>A, NM_001287741.2:c.403G>A, NM_001287741.1:c.403G>A, XM_047418903.1:c.202G>A, XM_047418902.1:c.403G>A, XM_047418904.1:c.202G>A, NP_061909.2:p.Glu197Lys, NP_001274675.1:p.Glu68Lys, NP_001035865.1:p.Glu167Lys, NP_001274670.1:p.Glu135Lys, XP_047274859.1:p.Glu68Lys, XP_047274858.1:p.Glu135Lys, XP_047274860.1:p.Glu68Lys

Select item 143433593514.

rs1434335935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:55516534 (GRCh38)
6:55381332 (GRCh37)
Canonical SPDI:: NC_000006.12:55516533:G:A,NC_000006.12:55516533:G:T
Gene:: HMGCLL1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.55516534G>A, NC_000006.12:g.55516534G>T, NC_000006.11:g.55381332G>A, NC_000006.11:g.55381332G>T, NM_019036.3:c.457C>T, NM_019036.3:c.457C>A, NM_019036.2:c.457C>T, NM_019036.2:c.457C>A, NM_001287746.2:c.70C>T, NM_001287746.2:c.70C>A, NM_001287746.1:c.70C>T, NM_001287746.1:c.70C>A, NM_001042406.2:c.367C>T, NM_001042406.2:c.367C>A, NM_001042406.1:c.367C>T, NM_001042406.1:c.367C>A, XM_047418903.1:c.70C>T, XM_047418903.1:c.70C>A, XM_047418902.1:c.271C>T, XM_047418902.1:c.271C>A, XM_047418904.1:c.70C>T, XM_047418904.1:c.70C>A, NP_061909.2:p.Pro153Ser, NP_061909.2:p.Pro153Thr, NP_001274675.1:p.Pro24Ser, NP_001274675.1:p.Pro24Thr, NP_001035865.1:p.Pro123Ser, NP_001035865.1:p.Pro123Thr, XP_047274859.1:p.Pro24Ser, XP_047274859.1:p.Pro24Thr, XP_047274858.1:p.Pro91Ser, XP_047274858.1:p.Pro91Thr, XP_047274860.1:p.Pro24Ser, XP_047274860.1:p.Pro24Thr

Select item 143288751115.

rs1432887511 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 6:55499262 (GRCh38)
6:55364060 (GRCh37)
Canonical SPDI:: NC_000006.12:55499261:TT:T
Gene:: HMGCLL1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000006.12:g.55499263del, NC_000006.11:g.55364061del, NM_019036.3:c.670del, NM_019036.2:c.670del, NM_001287746.2:c.283del, NM_001287746.1:c.283del, NM_001042406.2:c.580del, NM_001042406.1:c.580del, NM_001287741.2:c.484del, NM_001287741.1:c.484del, XM_047418903.1:c.283del, XM_047418902.1:c.484del, XM_047418904.1:c.283del, NP_061909.2:p.Ser224fs, NP_001274675.1:p.Ser95fs, NP_001035865.1:p.Ser194fs, NP_001274670.1:p.Ser162fs, XP_047274859.1:p.Ser95fs, XP_047274858.1:p.Ser162fs, XP_047274860.1:p.Ser95fs

Select item 143099829016.

rs1430998290 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:55495461 (GRCh38)
6:55360259 (GRCh37)
Canonical SPDI:: NC_000006.12:55495460:G:T
Gene:: HMGCLL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55495461G>T, NC_000006.11:g.55360259G>T, NM_019036.3:c.843C>A, NM_019036.2:c.843C>A, NM_001287746.2:c.456C>A, NM_001287746.1:c.456C>A, NM_001042406.2:c.753C>A, NM_001042406.1:c.753C>A, NM_001287741.2:c.657C>A, NM_001287741.1:c.657C>A, NM_001287753.2:c.444C>A, NM_001287753.1:c.444C>A, XM_047418903.1:c.456C>A, XM_047418902.1:c.657C>A, XM_047418904.1:c.456C>A, NP_061909.2:p.Asp281Glu, NP_001274675.1:p.Asp152Glu, NP_001035865.1:p.Asp251Glu, NP_001274670.1:p.Asp219Glu, NP_001274682.1:p.Asp148Glu, XP_047274859.1:p.Asp152Glu, XP_047274858.1:p.Asp219Glu, XP_047274860.1:p.Asp152Glu

Select item 142989866417.

rs1429898664 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:55499296 (GRCh38)
6:55364094 (GRCh37)
Canonical SPDI:: NC_000006.12:55499295:A:G,NC_000006.12:55499295:A:T
Gene:: HMGCLL1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.55499296A>G, NC_000006.12:g.55499296A>T, NC_000006.11:g.55364094A>G, NC_000006.11:g.55364094A>T, NM_019036.3:c.636T>C, NM_019036.3:c.636T>A, NM_019036.2:c.636T>C, NM_019036.2:c.636T>A, NM_001287746.2:c.249T>C, NM_001287746.2:c.249T>A, NM_001287746.1:c.249T>C, NM_001287746.1:c.249T>A, NM_001042406.2:c.546T>C, NM_001042406.2:c.546T>A, NM_001042406.1:c.546T>C, NM_001042406.1:c.546T>A, NM_001287741.2:c.450T>C, NM_001287741.2:c.450T>A, NM_001287741.1:c.450T>C, NM_001287741.1:c.450T>A, XM_047418903.1:c.249T>C, XM_047418903.1:c.249T>A, XM_047418902.1:c.450T>C, XM_047418902.1:c.450T>A, XM_047418904.1:c.249T>C, XM_047418904.1:c.249T>A, NP_061909.2:p.Tyr212Ter, NP_001274675.1:p.Tyr83Ter, NP_001035865.1:p.Tyr182Ter, NP_001274670.1:p.Tyr150Ter, XP_047274859.1:p.Tyr83Ter, XP_047274858.1:p.Tyr150Ter, XP_047274860.1:p.Tyr83Ter

Select item 142668555418.

rs1426685554 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:55514190 (GRCh38)
6:55378988 (GRCh37)
Canonical SPDI:: NC_000006.12:55514189:C:G
Gene:: HMGCLL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55514190C>G, NC_000006.11:g.55378988C>G, NM_019036.3:c.490G>C, NM_019036.2:c.490G>C, NR_109867.2:n.441G>C, NR_109867.1:n.463G>C, NM_001287746.2:c.103G>C, NM_001287746.1:c.103G>C, NM_001042406.2:c.400G>C, NM_001042406.1:c.400G>C, NM_001287741.2:c.304G>C, NM_001287741.1:c.304G>C, XM_047418903.1:c.103G>C, XM_047418902.1:c.304G>C, XM_047418904.1:c.103G>C, NP_061909.2:p.Ala164Pro, NP_001274675.1:p.Ala35Pro, NP_001035865.1:p.Ala134Pro, NP_001274670.1:p.Ala102Pro, XP_047274859.1:p.Ala35Pro, XP_047274858.1:p.Ala102Pro, XP_047274860.1:p.Ala35Pro

Select item 142632356519.

rs1426323565 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:55514110 (GRCh38)
6:55378908 (GRCh37)
Canonical SPDI:: NC_000006.12:55514109:T:C
Gene:: HMGCLL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.55514110T>C, NC_000006.11:g.55378908T>C, NM_019036.3:c.570A>G, NM_019036.2:c.570A>G, NR_109867.2:n.521A>G, NR_109867.1:n.543A>G, NM_001287746.2:c.183A>G, NM_001287746.1:c.183A>G, NM_001042406.2:c.480A>G, NM_001042406.1:c.480A>G, NM_001287741.2:c.384A>G, NM_001287741.1:c.384A>G, XM_047418903.1:c.183A>G, XM_047418902.1:c.384A>G, XM_047418904.1:c.183A>G

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 252

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 252

Page of 13

Page of 13

Display Settings:

Supplemental Content

Find related data

Recent activity