gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7455542T>A , CM000679.2:g.7455542T>A | GRCh38 |
| NC_000017.10:g.7358861T>A , CM000679.1:g.7358861T>A | GRCh37 |
| NC_000017.9:g.7299585T>A | NCBI36 |
| NG_008026.1:g.15456T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1217+86T>A MANE Select | ENSP00000304290.2:n.1217+86T>A | |
| ENST00000306071.6:c.1217+86T>A | ENSP00000304290.2:n.1217+86T>A | |
| ENST00000536404.6:c.1001+86T>A | ENSP00000439209.2:n.1001+86T>A | |
| ENST00000570557.5:c.880+86T>A | ||
| ENST00000573209.1:n.2247T>A | ||
| ENST00000576360.1:c.854+86T>A | ENSP00000459092.1:n.854+86T>A | |
| NM_000747.2:c.1217+86T>A | NP_000738.2:n.1217+86T>A | |
| NM_000747.3:c.1217+86T>A MANE Select | NP_000738.2:n.1217+86T>A |