gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80279091C>G , CM000674.2:g.80279091C>G | GRCh38 |
| NC_000012.11:g.80672871C>G , CM000674.1:g.80672871C>G | GRCh37 |
| NC_000012.10:g.79197002C>G | NCBI36 |
| NG_033008.1:g.74639C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547103.7:c.2853C>G MANE Select | ENSP00000447211.2:p.Tyr951Ter | |
| ENST00000646859.1:c.2853C>G | ENSP00000496036.1:p.Tyr951Ter | |
| ENST00000458043.6:c.2826C>G | ENSP00000400895.2:p.Tyr942Ter | |
| ENST00000547103.5:c.2826C>G | ENSP00000447211.1:p.Tyr942Ter | |
| NM_173591.3:c.2826C>G | NP_775862.3:p.Tyr942Ter | |
| XM_005268802.2:c.2877C>G | XP_005268859.1:p.Tyr959Ter | |
| XM_011538191.1:c.2877C>G | XP_011536493.1:p.Tyr959Ter | |
| XM_011538192.1:c.2724C>G | XP_011536494.1:p.Tyr908Ter | |
| XM_011538193.1:c.2511C>G | XP_011536495.1:p.Tyr837Ter | |
| XM_005268802.3:c.2877C>G | XP_005268859.1:p.Tyr959Ter | |
| XM_011538192.2:c.2724C>G | XP_011536494.1:p.Tyr908Ter | |
| NM_001368062.1:c.2826C>G | NP_001354991.1:p.Tyr942Ter | |
| NM_001368062.3:c.2853C>G | NP_001354991.2:p.Tyr951Ter | |
| NM_001378609.3:c.2853C>G MANE Select | NP_001365538.2:p.Tyr951Ter | |
| NM_001378610.3:c.2853C>G | NP_001365539.2:p.Tyr951Ter | |
| NM_173591.7:c.2853C>G | NP_775862.4:p.Tyr951Ter |