Linked Data
ClinVar Variation Id:
907763
ClinVar RCV Id:
RCV001157843
dbSNP Id:
rs138643812
ExAC:
5:78076339 C / T
gnomAD v2:
5-78076339-C-T
gnomAD v3:
5-78780516-C-T
gnomAD v4:
5-78780516-C-T
COSMIC:
COSM196736
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78780516C>T , CM000667.2:g.78780516C>T | GRCh38 |
| NC_000005.9:g.78076339C>T , CM000667.1:g.78076339C>T | GRCh37 |
| NC_000005.8:g.78112095C>T | NCBI36 |
| NG_007089.1:g.211019G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264914.10:c.1483G>A MANE Select | ENSP00000264914.4:p.Val495Ile | |
| ENST00000264914.8:c.1483G>A | ENSP00000264914.4:p.Val495Ile | |
| ENST00000521011.1:n.448G>A | ||
| NM_000046.3:c.1483G>A | NP_000037.2:p.Val495Ile | |
| XM_011543390.1:c.1483G>A | XP_011541692.1:p.Val495Ile | |
| NM_000046.4:c.1483G>A | NP_000037.2:p.Val495Ile | |
| NM_000046.5:c.1483G>A MANE Select | NP_000037.2:p.Val495Ile |