Linked Data
dbSNP Id:
rs1447696907
gnomAD v3:
7-74783484-G-A
gnomAD v4:
7-74783484-G-A
MyVariant Identifiers:
chr7:g.74783484G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74783484G>A , CM000669.2:g.74783484G>A | GRCh38 |
| NC_000007.13:g.74197827G>A , CM000669.1:g.74197827G>A | GRCh37 |
| NC_000007.12:g.73835763G>A | NCBI36 |
| NG_009078.2:g.14521G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289473.11:c.575-41G>A MANE Select | ENSP00000289473.4:n.575-41G>A | |
| ENST00000289473.10:c.575-41G>A | ENSP00000289473.4:n.575-41G>A | |
| ENST00000289473.8:c.575-41G>A | ENSP00000289473.4:n.575-41G>A | |
| ENST00000398421.6:n.1091G>A | ||
| ENST00000443956.7:n.696-41G>A | ||
| ENST00000449343.6:n.1018G>A | ||
| ENST00000455062.2:n.681G>A | ||
| ENST00000464878.5:c.847G>A | ||
| ENST00000486097.1:n.42G>A | ||
| NM_000265.5:c.575-41G>A | NP_000256.4:n.575-41G>A | |
| XM_005250543.3:c.575-41G>A | XP_005250600.2:n.575-41G>A | |
| XM_005250544.3:c.575-41G>A | XP_005250601.2:n.575-41G>A | |
| XM_011516498.1:c.575-41G>A | XP_011514800.1:n.575-41G>A | |
| XM_011516499.1:c.575-41G>A | XP_011514801.1:n.575-41G>A | |
| XM_011516500.1:c.575-41G>A | XP_011514802.1:n.575-41G>A | |
| XM_011516501.1:c.182-41G>A | XP_011514803.1:n.182-41G>A | |
| XR_242262.3:n.630-41G>A | ||
| XR_927515.1:n.630-41G>A | ||
| NM_000265.6:c.575-41G>A | NP_000256.4:n.575-41G>A | |
| NM_000265.7:c.575-41G>A MANE Select | NP_000256.4:n.575-41G>A |