Linked Data
dbSNP Id:
rs215614
gnomAD v2:
7-32347335-G-A
gnomAD v3:
7-32307723-G-A
gnomAD v4:
7-32307723-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.32307723G>A , CM000669.2:g.32307723G>A | GRCh38 |
| NC_000007.13:g.32347335G>A , CM000669.1:g.32347335G>A | GRCh37 |
| NC_000007.12:g.32313860G>A | NCBI36 |
| NG_051183.1:g.125502C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000672256.1:c.311-98184C>T | ENSP00000499831.1:n.311-98184C>T | |
| NM_001322059.1:c.311-98184C>T | NP_001308988.1:n.311-98184C>T | |
| NM_001322059.2:c.311-98184C>T | NP_001308988.1:n.311-98184C>T |