Linked Data
ClinVar Variation Id:
1299652
ClinVar RCV Id:
RCV001730125
dbSNP Id:
rs2136479389
COSMIC:
COSM4040521
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13615162C>T , CM000674.2:g.13615162C>T | GRCh38 |
| NC_000012.11:g.13768096C>T , CM000674.1:g.13768096C>T | GRCh37 |
| NC_000012.10:g.13659363C>T | NCBI36 |
| NG_031854.1:g.369927G>A | |
| NG_031854.2:g.371851G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609686.4:c.1606G>A MANE Select | ENSP00000477455.1:p.Val536Ile | |
| ENST00000609686.3:c.1606G>A | ENSP00000477455.1:p.Val536Ile | |
| NM_000834.3:c.1606G>A | NP_000825.2:p.Val536Ile | |
| XM_011520628.1:c.1606G>A | XP_011518930.1:p.Val536Ile | |
| XM_011520629.1:c.1606G>A | XP_011518931.1:p.Val536Ile | |
| XM_011520630.1:c.1606G>A | XP_011518932.1:p.Val536Ile | |
| XR_931372.1:n.243C>T | ||
| XR_931373.1:n.383C>T | ||
| XR_931374.1:n.182C>T | ||
| NM_000834.4:c.1606G>A | NP_000825.2:p.Val536Ile | |
| XM_011520628.2:c.1606G>A | XP_011518930.1:p.Val536Ile | |
| XM_011520629.2:c.1606G>A | XP_011518931.1:p.Val536Ile | |
| XM_017019219.2:c.1606G>A | XP_016874708.1:p.Val536Ile | |
| XR_001749013.1:n.664C>T | ||
| XR_931372.2:n.380C>T | ||
| XR_931373.2:n.522C>T | ||
| NM_000834.5:c.1606G>A MANE Select | NP_000825.2:p.Val536Ile |