Linked Data
dbSNP Id:
rs16875954
gnomAD v2:
7-32444462-G-A
gnomAD v3:
7-32404850-G-A
gnomAD v4:
7-32404850-G-A
COSMIC:
COSN8300311
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.32404850G>A , CM000669.2:g.32404850G>A | GRCh38 |
| NC_000007.13:g.32444462G>A , CM000669.1:g.32444462G>A | GRCh37 |
| NC_000007.12:g.32410987G>A | NCBI36 |
| NG_051183.1:g.28375C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000672256.1:c.310+22972C>T | ENSP00000499831.1:n.310+22972C>T | |
| NM_001322059.1:c.310+22972C>T | NP_001308988.1:n.310+22972C>T | |
| NM_001322059.2:c.310+22972C>T | NP_001308988.1:n.310+22972C>T |