Linked Data
dbSNP Id:
rs762392769
ExAC:
13:28592690 C / T
gnomAD v2:
13-28592690-C-T
gnomAD v4:
13-28018553-C-T
COSMIC:
COSM6342213
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28018553C>T , CM000675.2:g.28018553C>T | GRCh38 |
| NC_000013.10:g.28592690C>T , CM000675.1:g.28592690C>T | GRCh37 |
| NC_000013.9:g.27490690C>T | NCBI36 |
| NG_007066.1:g.87016G>A , LRG_457:g.87016G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241453.12:c.2455G>A MANE Select | ENSP00000241453.7:p.Val819Ile | |
| ENST00000241453.11:c.2455G>A | ENSP00000241453.7:p.Val819Ile | |
| ENST00000380987.2:c.*367G>A | ENSP00000370374.2:n.*367G>A | |
| NM_004119.2:c.2455G>A , LRG_457t1:c.2455G>A | NP_004110.2:p.Val819Ile | |
| NR_130706.1:n.2669G>A | ||
| XM_011535015.1:c.2398G>A | XP_011533317.1:p.Val800Ile | |
| XM_011535016.1:c.1930G>A | XP_011533318.1:p.Val644Ile | |
| XM_011535017.1:c.1930G>A | XP_011533319.1:p.Val644Ile | |
| XM_011535018.1:c.1930G>A | XP_011533320.1:p.Val644Ile | |
| XM_011535015.2:c.2398G>A | XP_011533317.1:p.Val800Ile | |
| XM_011535017.2:c.1930G>A | XP_011533319.1:p.Val644Ile | |
| XM_011535018.2:c.1930G>A | XP_011533320.1:p.Val644Ile | |
| XM_017020486.1:c.2239G>A | XP_016875975.1:p.Val747Ile | |
| XM_017020487.1:c.1930G>A | XP_016875976.1:p.Val644Ile | |
| XM_017020488.1:c.1576G>A | XP_016875977.1:p.Val526Ile | |
| XM_017020489.1:c.1558G>A | XP_016875978.1:p.Val520Ile | |
| NM_004119.3:c.2455G>A MANE Select | NP_004110.2:p.Val819Ile | |
| NR_130706.2:n.2653G>A |