Linked Data
ClinVar Variation Id:
3827
ClinVar RCV Id:
RCV000004031
dbSNP Id:
rs121908004
gnomAD v2:
12-121174852-G-T
gnomAD v3:
12-120737049-G-T
gnomAD v4:
12-120737049-G-T
PubMed:
PMID:9499414
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120737049G>T , CM000674.2:g.120737049G>T | GRCh38 |
| NC_000012.11:g.121174852G>T , CM000674.1:g.121174852G>T | GRCh37 |
| NC_000012.10:g.119659235G>T | NCBI36 |
| NG_007991.1:g.16282G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242592.9:c.274G>T MANE Select | ENSP00000242592.4:p.Gly92Cys | |
| ENST00000242592.8:c.274G>T | ENSP00000242592.4:p.Gly92Cys | |
| ENST00000411593.2:c.274G>T | ENSP00000401045.2:p.Gly92Cys | |
| ENST00000539690.1:n.386G>T | ||
| NM_000017.3:c.274G>T | NP_000008.1:p.Gly92Cys | |
| NM_001302554.1:c.274G>T | NP_001289483.1:p.Gly92Cys | |
| NM_000017.4:c.274G>T MANE Select | NP_000008.1:p.Gly92Cys | |
| NM_001302554.2:c.274G>T | NP_001289483.1:p.Gly92Cys |