Linked Data
dbSNP Id:
rs17222814
gnomAD v2:
13-31299553-G-A
gnomAD v3:
13-30725416-G-A
gnomAD v4:
13-30725416-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.30725416G>A , CM000675.2:g.30725416G>A | GRCh38 |
| NC_000013.10:g.31299553G>A , CM000675.1:g.31299553G>A | GRCh37 |
| NC_000013.9:g.30197553G>A | NCBI36 |
| NG_011963.2:g.16939G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617770.4:c.117-10135G>A | ENSP00000479870.1:n.117-10135G>A | |
| NM_001204406.1:c.117-10135G>A | NP_001191335.1:n.117-10135G>A | |
| NM_001204406.2:c.117-10135G>A | NP_001191335.1:n.117-10135G>A |