Linked Data
ClinVar Variation Id:
2065762
ClinVar RCV Id:
RCV002929154
dbSNP Id:
rs779204615
ExAC:
15:67073336 C / T
gnomAD v2:
15-67073336-C-T
gnomAD v3:
15-66780998-C-T
gnomAD v4:
15-66780998-C-T
COSMIC:
COSM6229368
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66780998C>T , CM000677.2:g.66780998C>T | GRCh38 |
| NC_000015.9:g.67073336C>T , CM000677.1:g.67073336C>T | GRCh37 |
| NC_000015.8:g.64860390C>T | NCBI36 |
| NG_012244.1:g.83663C>T | |
| NG_012244.2:g.83663C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.954C>T MANE Select | ENSP00000288840.5:p.Asp318= | |
| ENST00000288840.9:c.954C>T | ENSP00000288840.5:p.Asp318= | |
| ENST00000557916.5:c.1086C>T | ENSP00000452955.1:n.1086C>T | |
| ENST00000559931.5:c.258C>T | ENSP00000453446.1:n.258C>T | |
| NM_005585.4:c.954C>T | NP_005576.3:p.Asp318= | |
| NR_027654.1:n.2009C>T | ||
| XM_011521561.1:c.171C>T | XP_011519863.1:p.Asp57= | |
| XR_931825.1:n.2353C>T | ||
| XM_011521561.2:c.171C>T | XP_011519863.1:p.Asp57= | |
| NM_005585.5:c.954C>T MANE Select | NP_005576.3:p.Asp318= | |
| NR_027654.2:n.2109C>T |