Linked Data
ClinVar Variation Id:
14831
ClinVar RCV Id:
RCV000015956
dbSNP Id:
rs104894698
ExAC:
19:17927755 G / A
gnomAD v2:
19-17927755-G-A
gnomAD v3:
19-17816946-G-A
gnomAD v4:
19-17816946-G-A
COSMIC:
COSM5564055
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17816946G>A , CM000681.2:g.17816946G>A | GRCh38 |
| NC_000019.9:g.17927755G>A , CM000681.1:g.17927755G>A | GRCh37 |
| NC_000019.8:g.17788755G>A | NCBI36 |
| NG_012092.1:g.9566C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317306.8:c.304C>T MANE Select | ENSP00000321724.6:p.Arg102Cys | |
| ENST00000317306.7:c.304C>T | ENSP00000321724.6:p.Arg102Cys | |
| ENST00000379695.5:c.399C>T | ENSP00000369017.4:p.Thr133= | |
| ENST00000598577.1:c.325C>T | ||
| NM_001265587.1:c.399C>T | NP_001252516.1:p.Thr133= | |
| NM_005543.3:c.304C>T | NP_005534.2:p.Arg102Cys | |
| NM_001265587.2:c.399C>T | NP_001252516.1:p.Thr133= | |
| NM_005543.4:c.304C>T MANE Select | NP_005534.2:p.Arg102Cys |