Linked Data
ClinVar Variation Id:
1108229
ClinVar RCV Id:
RCV001433642
dbSNP Id:
rs138670218
ExAC:
10:104449689 G / A
gnomAD v2:
10-104449689-G-A
gnomAD v3:
10-102689932-G-A
gnomAD v4:
10-102689932-G-A
COSMIC:
COSM3414641
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102689932G>A , CM000672.2:g.102689932G>A | GRCh38 |
| NC_000010.10:g.104449689G>A , CM000672.1:g.104449689G>A | GRCh37 |
| NC_000010.9:g.104439679G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260746.6:c.276C>T MANE Select | ENSP00000260746.4:p.Ile92= | |
| ENST00000260746.5:c.276C>T | ENSP00000260746.4:p.Ile92= | |
| NM_004311.3:c.276C>T | NP_004302.1:p.Ile92= | |
| XM_017016260.1:c.276C>T | XP_016871749.1:p.Ile92= | |
| NM_004311.4:c.276C>T MANE Select | NP_004302.1:p.Ile92= |