Linked Data
ClinVar Variation Id:
502791
ClinVar RCV Id:
RCV000597942
dbSNP Id:
rs764881762
ExAC:
2:219128027 C / T
gnomAD v2:
2-219128027-C-T
gnomAD v3:
2-218263304-C-T
gnomAD v4:
2-218263304-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218263304C>T , CM000664.2:g.218263304C>T | GRCh38 |
| NC_000002.11:g.219128027C>T , CM000664.1:g.219128027C>T | GRCh37 |
| NC_000002.10:g.218836271C>T | NCBI36 |
| NG_033036.1:g.11867G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519574.2:c.580C>T MANE Select | ENSP00000430202.1:p.Arg194Cys | |
| ENST00000479077.5:c.580C>T | ENSP00000430698.1:p.Arg194Cys | |
| ENST00000519574.1:c.580C>T | ENSP00000430202.1:p.Arg194Cys | |
| ENST00000521462.1:c.580C>T | ENSP00000428824.1:p.Arg194Cys | |
| ENST00000522678.5:c.580C>T | ENSP00000430886.1:p.Arg194Cys | |
| NM_001077191.1:c.580C>T | NP_001070659.1:p.Arg194Cys | |
| NM_001077194.1:c.580C>T | NP_001070662.1:p.Arg194Cys | |
| NM_170699.2:c.580C>T | NP_733800.1:p.Arg194Cys | |
| XM_011510743.1:c.580C>T | XP_011509045.1:p.Arg194Cys | |
| XM_011510744.1:c.580C>T | XP_011509046.1:p.Arg194Cys | |
| NM_001321950.1:c.580C>T | NP_001308879.1:p.Arg194Cys | |
| XM_017003467.1:c.580C>T | XP_016858956.1:p.Arg194Cys | |
| XM_017003468.1:c.580C>T | XP_016858957.1:p.Arg194Cys | |
| XM_017003469.1:c.580C>T | XP_016858958.1:p.Arg194Cys | |
| NM_170699.3:c.580C>T MANE Select | NP_733800.1:p.Arg194Cys | |
| NM_001077191.2:c.580C>T | NP_001070659.1:p.Arg194Cys | |
| NM_001077194.2:c.580C>T | NP_001070662.1:p.Arg194Cys | |
| NM_001321950.2:c.580C>T | NP_001308879.1:p.Arg194Cys |