gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000781 (NFE)
Exomes Max Group AF
0.0000083 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137236239G>A , CM000671.2:g.137236239G>A | GRCh38 |
| NC_000009.11:g.140130691G>A , CM000671.1:g.140130691G>A | GRCh37 |
| NC_000009.10:g.139250512G>A | NCBI36 |
| NG_017008.1:g.10483G>A | |
| NG_017008.2:g.10339G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673835.1:c.1623G>A MANE Select | ENSP00000501114.1:p.Trp541Ter | |
| ENST00000361134.2:c.1623G>A | ENSP00000355353.2:p.Trp541Ter | |
| ENST00000538474.5:c.1623G>A | ENSP00000442397.1:p.Trp541Ter | |
| NM_001177316.1:c.1623G>A | NP_001170787.1:p.Trp541Ter | |
| NM_001177317.1:c.1623G>A | NP_001170788.1:p.Trp541Ter | |
| NM_080877.2:c.1623G>A | NP_543153.1:p.Trp541Ter | |
| XM_017014292.1:c.1623G>A | XP_016869781.1:p.Trp541Ter | |
| NM_001177316.2:c.1623G>A MANE Select | NP_001170787.2:p.Trp541Ter | |
| NM_001177317.2:c.1623G>A | NP_001170788.2:p.Trp541Ter | |
| NM_080877.3:c.1623G>A | NP_543153.2:p.Trp541Ter |