gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005788 (EAS)
Exomes Max Group AF
0.00004909 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23810796G>A , CM000663.2:g.23810796G>A | GRCh38 |
| NC_000001.10:g.24137286G>A , CM000663.1:g.24137286G>A | GRCh37 |
| NC_000001.9:g.24009873G>A | NCBI36 |
| NG_013061.1:g.19664C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.501C>T MANE Select | ENSP00000363614.3:p.Tyr167= | |
| ENST00000235958.4:c.132-2473C>T | ||
| ENST00000374487.6:c.*542C>T | ENSP00000363611.2:n.*542C>T | |
| ENST00000374490.7:c.501C>T | ENSP00000363614.3:p.Tyr167= | |
| ENST00000436439.6:c.349-2473C>T | ENSP00000389281.2:n.349-2473C>T | |
| ENST00000496907.1:n.136C>T | ||
| ENST00000509389.5:n.361-2581C>T | ||
| ENST00000513148.1:n.502C>T | ||
| NM_000191.2:c.501C>T | NP_000182.2:p.Tyr167= | |
| NM_001166059.1:c.349-2473C>T | NP_001159531.1:n.349-2473C>T | |
| NM_000191.3:c.501C>T MANE Select | NP_000182.2:p.Tyr167= | |
| NM_001166059.2:c.349-2473C>T | NP_001159531.1:n.349-2473C>T |