ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000194 (NFE)
Genomes Max Group AF
0.00001172 (NFE)
Exomes Max Group AF
0.00001802 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44908979G>A , CM000681.2:g.44908979G>A | GRCh38 |
| NC_000019.9:g.45412236G>A , CM000681.1:g.45412236G>A | GRCh37 |
| NC_000019.8:g.50104076G>A | NCBI36 |
| NG_007084.2:g.8198G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252486.9:c.683G>A MANE Select | ENSP00000252486.3:p.Trp228Ter | |
| ENST00000252486.8:c.683G>A | ENSP00000252486.3:p.Trp228Ter | |
| ENST00000434152.5:c.761G>A | ENSP00000413653.2:p.Trp254Ter | |
| NM_000041.3:c.683G>A | NP_000032.1:p.Trp228Ter | |
| NM_001302688.1:c.761G>A | NP_001289617.1:p.Trp254Ter | |
| NM_001302689.1:c.683G>A | NP_001289618.1:p.Trp228Ter | |
| NM_001302690.1:c.683G>A | NP_001289619.1:p.Trp228Ter | |
| NM_001302691.1:c.683G>A | NP_001289620.1:p.Trp228Ter | |
| NM_000041.4:c.683G>A MANE Select | NP_000032.1:p.Trp228Ter | |
| NM_001302688.2:c.761G>A | NP_001289617.1:p.Trp254Ter | |
| NM_001302689.2:c.683G>A | NP_001289618.1:p.Trp228Ter | |
| NM_001302691.2:c.683G>A | NP_001289620.1:p.Trp228Ter | |
| NM_001302690.2:c.683G>A | NP_001289619.1:p.Trp228Ter |