gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80302673C>T , CM000674.2:g.80302673C>T | GRCh38 |
| NC_000012.11:g.80696453C>T , CM000674.1:g.80696453C>T | GRCh37 |
| NC_000012.10:g.79220584C>T | NCBI36 |
| NG_033008.1:g.98221C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547103.7:c.3103C>T MANE Select | ENSP00000447211.2:p.Gln1035Ter | |
| ENST00000646859.1:c.2968C>T | ENSP00000496036.1:p.Gln990Ter | |
| ENST00000458043.6:c.3076C>T | ENSP00000400895.2:p.Gln1026Ter | |
| ENST00000547103.5:c.3076C>T | ENSP00000447211.1:p.Gln1026Ter | |
| NM_173591.3:c.3076C>T | NP_775862.3:p.Gln1026Ter | |
| XM_005268802.2:c.3127C>T | XP_005268859.1:p.Gln1043Ter | |
| XM_011538191.1:c.3127C>T | XP_011536493.1:p.Gln1043Ter | |
| XM_011538192.1:c.2974C>T | XP_011536494.1:p.Gln992Ter | |
| XM_011538193.1:c.2761C>T | XP_011536495.1:p.Gln921Ter | |
| XM_005268802.3:c.3127C>T | XP_005268859.1:p.Gln1043Ter | |
| XM_011538192.2:c.2974C>T | XP_011536494.1:p.Gln992Ter | |
| NM_001368062.1:c.2941C>T | NP_001354991.1:p.Gln981Ter | |
| NM_001368062.3:c.2968C>T | NP_001354991.2:p.Gln990Ter | |
| NM_001378609.3:c.3103C>T MANE Select | NP_001365538.2:p.Gln1035Ter | |
| NM_001378610.3:c.3103C>T | NP_001365539.2:p.Gln1035Ter | |
| NM_173591.7:c.3103C>T | NP_775862.4:p.Gln1035Ter |