Linked Data
dbSNP Id:
rs904709382
gnomAD v2:
7-32444331-G-A
gnomAD v3:
7-32404719-G-A
gnomAD v4:
7-32404719-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.32404719G>A , CM000669.2:g.32404719G>A | GRCh38 |
| NC_000007.13:g.32444331G>A , CM000669.1:g.32444331G>A | GRCh37 |
| NC_000007.12:g.32410856G>A | NCBI36 |
| NG_051183.1:g.28506C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000672256.1:c.310+23103C>T | ENSP00000499831.1:n.310+23103C>T | |
| NM_001322059.1:c.310+23103C>T | NP_001308988.1:n.310+23103C>T | |
| NM_001322059.2:c.310+23103C>T | NP_001308988.1:n.310+23103C>T |