SNP Links for Nucleotide (Select 54607105) - SNP - NCBI

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Links from Nucleotide

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Select item 14869584071.

rs1486958407 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:129304859 (GRCh38)
3:129023702 (GRCh37)
Canonical SPDI:: NC_000003.12:129304858:C:A,NC_000003.12:129304858:C:T
Gene:: HMCES (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129304859C>A, NC_000003.12:g.129304859C>T, NC_000003.11:g.129023702C>A, NC_000003.11:g.129023702C>T, NM_020187.3:c.*34C>A, NM_020187.3:c.*34C>T, NM_020187.2:c.*34C>A, NM_020187.2:c.*34C>T, NM_001370343.1:c.*34C>A, NM_001370343.1:c.*34C>T, NM_001370344.1:c.*34C>A, NM_001370344.1:c.*34C>T, NM_001370345.1:c.*34C>A, NM_001370345.1:c.*34C>T, NM_001006109.1:c.*34C>A, NM_001006109.1:c.*34C>T, NM_001363881.1:c.*34C>A, NM_001363881.1:c.*34C>T

Select item 14859694662.

rs1485969466 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:129302141 (GRCh38)
3:129020984 (GRCh37)
Canonical SPDI:: NC_000003.12:129302140:A:T
Gene:: HMCES (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129302141A>T, NC_000003.11:g.129020984A>T, NM_020187.3:c.827A>T, NM_020187.2:c.827A>T, NM_001370343.1:c.827A>T, NM_001370344.1:c.827A>T, NM_001370345.1:c.683A>T, NM_001006109.1:c.827A>T, NM_001363881.1:c.701A>T, NP_064572.2:p.Lys276Met, NP_001357272.1:p.Lys276Met, NP_001357273.1:p.Lys276Met, NP_001357274.1:p.Lys228Met, NP_001006109.1:p.Lys276Met, NP_001350810.1:p.Lys234Met

Select item 14840172573.

rs1484017257 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:129279839 (GRCh38)
3:128998682 (GRCh37)
Canonical SPDI:: NC_000003.12:129279838:A:T
Gene:: HMCES (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129279839A>T, NC_000003.11:g.128998682A>T, NM_020187.3:c.107A>T, NM_020187.2:c.107A>T, NM_001370343.1:c.107A>T, NM_001370344.1:c.107A>T, NM_001370345.1:c.107A>T, NM_001006109.1:c.107A>T, NM_001363881.1:c.107A>T, NP_064572.2:p.Asp36Val, NP_001357272.1:p.Asp36Val, NP_001357273.1:p.Asp36Val, NP_001357274.1:p.Asp36Val, NP_001006109.1:p.Asp36Val, NP_001350810.1:p.Asp36Val

Select item 14828845204.

rs1482884520 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129304624 (GRCh38)
3:129023467 (GRCh37)
Canonical SPDI:: NC_000003.12:129304623:G:A
Gene:: HMCES (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.129304624G>A, NC_000003.11:g.129023467G>A, NM_020187.3:c.864G>A, NM_020187.2:c.864G>A, NM_001370343.1:c.864G>A, NM_001370344.1:c.864G>A, NM_001370345.1:c.720G>A, NM_001006109.1:c.864G>A, NM_001363881.1:c.738G>A

Select item 14827745705.

rs1482774570 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:129302074 (GRCh38)
3:129020917 (GRCh37)
Canonical SPDI:: NC_000003.12:129302073:T:G
Gene:: HMCES (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129302074T>G, NC_000003.11:g.129020917T>G, NM_020187.3:c.760T>G, NM_020187.2:c.760T>G, NM_001370343.1:c.760T>G, NM_001370344.1:c.760T>G, NM_001370345.1:c.616T>G, NM_001006109.1:c.760T>G, NM_001363881.1:c.634T>G, NP_064572.2:p.Ser254Ala, NP_001357272.1:p.Ser254Ala, NP_001357273.1:p.Ser254Ala, NP_001357274.1:p.Ser206Ala, NP_001006109.1:p.Ser254Ala, NP_001350810.1:p.Ser212Ala

Select item 14807409756.

rs1480740975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129298403 (GRCh38)
3:129017246 (GRCh37)
Canonical SPDI:: NC_000003.12:129298402:G:A
Gene:: HMCES (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.129298403G>A, NC_000003.11:g.129017246G>A, NM_020187.3:c.503G>A, NM_020187.2:c.503G>A, NM_001370343.1:c.503G>A, NM_001370344.1:c.503G>A, NM_001370345.1:c.359G>A, NM_001006109.1:c.503G>A, NM_001363881.1:c.377G>A, NP_064572.2:p.Trp168Ter, NP_001357272.1:p.Trp168Ter, NP_001357273.1:p.Trp168Ter, NP_001357274.1:p.Trp120Ter, NP_001006109.1:p.Trp168Ter, NP_001350810.1:p.Trp126Ter

Select item 14800632887.

rs1480063288 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:129298473 (GRCh38)
3:129017316 (GRCh37)
Canonical SPDI:: NC_000003.12:129298472:C:A
Gene:: HMCES (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129298473C>A, NC_000003.11:g.129017316C>A, NM_020187.3:c.573C>A, NM_020187.2:c.573C>A, NM_001370343.1:c.573C>A, NM_001370344.1:c.573C>A, NM_001370345.1:c.429C>A, NM_001006109.1:c.573C>A, NM_001363881.1:c.447C>A

Select item 14779425138.

rs1477942513 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:129302033 (GRCh38)
3:129020876 (GRCh37)
Canonical SPDI:: NC_000003.12:129302032:T:G
Gene:: HMCES (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.129302033T>G, NC_000003.11:g.129020876T>G, NM_020187.3:c.719T>G, NM_020187.2:c.719T>G, NM_001370343.1:c.719T>G, NM_001370344.1:c.719T>G, NM_001370345.1:c.575T>G, NM_001006109.1:c.719T>G, NM_001363881.1:c.593T>G, NP_064572.2:p.Leu240Ter, NP_001357272.1:p.Leu240Ter, NP_001357273.1:p.Leu240Ter, NP_001357274.1:p.Leu192Ter, NP_001006109.1:p.Leu240Ter, NP_001350810.1:p.Leu198Ter

Select item 14767225109.

rs1476722510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129290701 (GRCh38)
3:129009544 (GRCh37)
Canonical SPDI:: NC_000003.12:129290700:G:A
Gene:: HMCES (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129290701G>A, NC_000003.11:g.129009544G>A, NM_020187.3:c.350G>A, NM_020187.2:c.350G>A, NM_001370343.1:c.350G>A, NM_001370344.1:c.350G>A, NM_001370345.1:c.206G>A, NM_001006109.1:c.350G>A, NP_064572.2:p.Arg117His, NP_001357272.1:p.Arg117His, NP_001357273.1:p.Arg117His, NP_001357274.1:p.Arg69His, NP_001006109.1:p.Arg117His

Select item 147666462410.

rs1476664624 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:129304892 (GRCh38)
3:129023735 (GRCh37)
Canonical SPDI:: NC_000003.12:129304891:T:C
Gene:: HMCES (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.00005/7 (GnomAD)
HGVS:: NC_000003.12:g.129304892T>C, NC_000003.11:g.129023735T>C, NM_020187.3:c.*67T>C, NM_020187.2:c.*67T>C, NM_001370343.1:c.*67T>C, NM_001370344.1:c.*67T>C, NM_001370345.1:c.*67T>C, NM_001006109.1:c.*67T>C, NM_001363881.1:c.*67T>C

Select item 147625090811.

rs1476250908 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:129304789 (GRCh38)
3:129023632 (GRCh37)
Canonical SPDI:: NC_000003.12:129304788:G:C
Gene:: HMCES (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129304789G>C, NC_000003.11:g.129023632G>C, NM_020187.3:c.1029G>C, NM_020187.2:c.1029G>C, NM_001370343.1:c.1029G>C, NM_001370344.1:c.1029G>C, NM_001370345.1:c.885G>C, NM_001006109.1:c.1029G>C, NM_001363881.1:c.903G>C, NP_064572.2:p.Glu343Asp, NP_001357272.1:p.Glu343Asp, NP_001357273.1:p.Glu343Asp, NP_001357274.1:p.Glu295Asp, NP_001006109.1:p.Glu343Asp, NP_001350810.1:p.Glu301Asp

Select item 147238386112.

rs1472383861 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:129288956 (GRCh38)
3:129007799 (GRCh37)
Canonical SPDI:: NC_000003.12:129288955:A:G
Gene:: HMCES (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129288956A>G, NC_000003.11:g.129007799A>G, NM_020187.3:c.286A>G, NM_020187.2:c.286A>G, NM_001370343.1:c.286A>G, NM_001370344.1:c.286A>G, NM_001006109.1:c.286A>G, NM_001363881.1:c.286A>G, NP_064572.2:p.Asn96Asp, NP_001357272.1:p.Asn96Asp, NP_001357273.1:p.Asn96Asp, NP_001006109.1:p.Asn96Asp, NP_001350810.1:p.Asn96Asp

Select item 146930617513.

rs1469306175 [Homo sapiens]

Variant type:: DEL
Alleles:: CCAGCA>- [Show Flanks]
Chromosome:: 3:129279807 (GRCh38)
3:128998650 (GRCh37)
Canonical SPDI:: NC_000003.12:129279806:CCAGCA:
Gene:: HMCES (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
HGVS:: NC_000003.12:g.129279807_129279812del, NC_000003.11:g.128998650_128998655del, NM_020187.3:c.75_80del, NM_020187.2:c.75_80del, NM_001370343.1:c.75_80del, NM_001370344.1:c.75_80del, NM_001370345.1:c.75_80del, NM_001006109.1:c.75_80del, NM_001363881.1:c.75_80del, NP_064572.2:p.Gln26_Gln27del, NP_001357272.1:p.Gln26_Gln27del, NP_001357273.1:p.Gln26_Gln27del, NP_001357274.1:p.Gln26_Gln27del, NP_001006109.1:p.Gln26_Gln27del, NP_001350810.1:p.Gln26_Gln27del

Select item 146891785914.

rs1468917859 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129301978 (GRCh38)
3:129020821 (GRCh37)
Canonical SPDI:: NC_000003.12:129301977:G:A
Gene:: HMCES (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129301978G>A, NC_000003.11:g.129020821G>A, NM_020187.3:c.664G>A, NM_020187.2:c.664G>A, NM_001370343.1:c.664G>A, NM_001370344.1:c.664G>A, NM_001370345.1:c.520G>A, NM_001006109.1:c.664G>A, NM_001363881.1:c.538G>A, NP_064572.2:p.Ala222Thr, NP_001357272.1:p.Ala222Thr, NP_001357273.1:p.Ala222Thr, NP_001357274.1:p.Ala174Thr, NP_001006109.1:p.Ala222Thr, NP_001350810.1:p.Ala180Thr

Select item 146676096715.

rs1466760967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:129279871 (GRCh38)
3:128998714 (GRCh37)
Canonical SPDI:: NC_000003.12:129279870:C:T
Gene:: HMCES (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129279871C>T, NC_000003.11:g.128998714C>T, NM_020187.3:c.139C>T, NM_020187.2:c.139C>T, NM_001370343.1:c.139C>T, NM_001370344.1:c.139C>T, NM_001370345.1:c.139C>T, NM_001006109.1:c.139C>T, NM_001363881.1:c.139C>T, NP_064572.2:p.Gln47Ter, NP_001357272.1:p.Gln47Ter, NP_001357273.1:p.Gln47Ter, NP_001357274.1:p.Gln47Ter, NP_001006109.1:p.Gln47Ter, NP_001350810.1:p.Gln47Ter

Select item 146672015416.

rs1466720154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:129304989 (GRCh38)
3:129023832 (GRCh37)
Canonical SPDI:: NC_000003.12:129304988:G:A,NC_000003.12:129304988:G:T
Gene:: HMCES (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.129304989G>A, NC_000003.12:g.129304989G>T, NC_000003.11:g.129023832G>A, NC_000003.11:g.129023832G>T, NM_020187.3:c.*164G>A, NM_020187.3:c.*164G>T, NM_020187.2:c.*164G>A, NM_020187.2:c.*164G>T, NM_001370343.1:c.*164G>A, NM_001370343.1:c.*164G>T, NM_001370344.1:c.*164G>A, NM_001370344.1:c.*164G>T, NM_001370345.1:c.*164G>A, NM_001370345.1:c.*164G>T, NM_001006109.1:c.*164G>A, NM_001006109.1:c.*164G>T, NM_001363881.1:c.*164G>A, NM_001363881.1:c.*164G>T

Select item 146670741017.

rs1466707410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:129304678 (GRCh38)
3:129023521 (GRCh37)
Canonical SPDI:: NC_000003.12:129304677:G:A,NC_000003.12:129304677:G:C
Gene:: HMCES (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129304678G>A, NC_000003.12:g.129304678G>C, NC_000003.11:g.129023521G>A, NC_000003.11:g.129023521G>C, NM_020187.3:c.918G>A, NM_020187.3:c.918G>C, NM_020187.2:c.918G>A, NM_020187.2:c.918G>C, NM_001370343.1:c.918G>A, NM_001370343.1:c.918G>C, NM_001370344.1:c.918G>A, NM_001370344.1:c.918G>C, NM_001370345.1:c.774G>A, NM_001370345.1:c.774G>C, NM_001006109.1:c.918G>A, NM_001006109.1:c.918G>C, NM_001363881.1:c.792G>A, NM_001363881.1:c.792G>C, NP_064572.2:p.Lys306Asn, NP_001357272.1:p.Lys306Asn, NP_001357273.1:p.Lys306Asn, NP_001357274.1:p.Lys258Asn, NP_001006109.1:p.Lys306Asn, NP_001350810.1:p.Lys264Asn

Select item 146631091318.

rs1466310913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:129279096 (GRCh38)
3:128997939 (GRCh37)
Canonical SPDI:: NC_000003.12:129279095:C:A
Gene:: HMCES (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129279096C>A, NC_000003.11:g.128997939C>A, NM_001370343.1:c.-131C>A, NM_001006109.1:c.-139C>A

Select item 146306534419.

rs1463065344 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:129304724 (GRCh38)
3:129023567 (GRCh37)
Canonical SPDI:: NC_000003.12:129304723:A:G
Gene:: HMCES (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.129304724A>G, NC_000003.11:g.129023567A>G, NM_020187.3:c.964A>G, NM_020187.2:c.964A>G, NM_001370343.1:c.964A>G, NM_001370344.1:c.964A>G, NM_001370345.1:c.820A>G, NM_001006109.1:c.964A>G, NM_001363881.1:c.838A>G, NP_064572.2:p.Ser322Gly, NP_001357272.1:p.Ser322Gly, NP_001357273.1:p.Ser322Gly, NP_001357274.1:p.Ser274Gly, NP_001006109.1:p.Ser322Gly, NP_001350810.1:p.Ser280Gly

Select item 146201063220.

rs1462010632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:129279739 (GRCh38)
3:128998582 (GRCh37)
Canonical SPDI:: NC_000003.12:129279738:G:A
Gene:: HMCES (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.129279739G>A, NC_000003.11:g.128998582G>A, NM_020187.3:c.7G>A, NM_020187.2:c.7G>A, NM_001370343.1:c.7G>A, NM_001370344.1:c.7G>A, NM_001370345.1:c.7G>A, NM_001006109.1:c.7G>A, NM_001363881.1:c.7G>A, NP_064572.2:p.Gly3Arg, NP_001357272.1:p.Gly3Arg, NP_001357273.1:p.Gly3Arg, NP_001357274.1:p.Gly3Arg, NP_001006109.1:p.Gly3Arg, NP_001350810.1:p.Gly3Arg

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