Linked Data
dbSNP Id:
rs779076547
gnomAD v2:
7-94055655-G-A
gnomAD v3:
7-94426343-G-A
gnomAD v4:
7-94426343-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94426343G>A , CM000669.2:g.94426343G>A | GRCh38 |
| NC_000007.13:g.94055655G>A , CM000669.1:g.94055655G>A | GRCh37 |
| NC_000007.12:g.93893591G>A | NCBI36 |
| NG_007405.1:g.36783G>A , LRG_2:g.36783G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2998-80G>A MANE Select | ENSP00000297268.6:n.2998-80G>A | |
| ENST00000297268.10:c.2998-80G>A | ENSP00000297268.6:n.2998-80G>A | |
| ENST00000478215.1:n.557-80G>A | ||
| ENST00000481570.5:n.2971-80G>A | ||
| ENST00000620463.1:c.2992-80G>A | ENSP00000477719.1:n.2992-80G>A | |
| NM_000089.3:c.2998-80G>A , LRG_2t1:c.2998-80G>A | NP_000080.2:n.2998-80G>A | |
| NM_000089.4:c.2998-80G>A MANE Select | NP_000080.2:n.2998-80G>A |