gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843777G>A , CM000674.2:g.102843777G>A | GRCh38 |
| NC_000012.11:g.103237555G>A , CM000674.1:g.103237555G>A | GRCh37 |
| NC_000012.10:g.101761685G>A | NCBI36 |
| NG_008690.1:g.78826C>T | |
| NG_008690.2:g.119634C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1068C>T MANE Select | ENSP00000448059.1:p.Tyr356= | |
| ENST00000307000.7:c.1053C>T | ENSP00000303500.2:p.Tyr351= | |
| ENST00000549247.6:n.827C>T | ||
| ENST00000551114.2:n.730C>T | ||
| ENST00000553106.5:c.1068C>T | ENSP00000448059.1:p.Tyr356= | |
| ENST00000635477.1:c.172C>T | ||
| ENST00000635528.1:n.583C>T | ||
| NM_000277.1:c.1068C>T | NP_000268.1:p.Tyr356= | |
| XM_011538422.1:c.1011C>T | XP_011536724.1:p.Tyr337= | |
| NM_000277.2:c.1068C>T | NP_000268.1:p.Tyr356= | |
| NM_001354304.1:c.1068C>T | NP_001341233.1:p.Tyr356= | |
| NM_000277.3:c.1068C>T MANE Select | NP_000268.1:p.Tyr356= | |
| NM_001354304.2:c.1068C>T | NP_001341233.1:p.Tyr356= |