gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127426227G>A , CM000664.2:g.127426227G>A | GRCh38 |
| NC_000002.11:g.128183803G>A , CM000664.1:g.128183803G>A | GRCh37 |
| NC_000002.10:g.127900273G>A | NCBI36 |
| NG_016323.1:g.12808G>A , LRG_599:g.12808G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.678G>A MANE Select | ENSP00000234071.4:p.Gln226= | |
| ENST00000234071.7:c.678G>A | ENSP00000234071.3:p.Gln226= | |
| ENST00000402125.2:c.121-2130G>A | ||
| ENST00000409048.1:c.780G>A | ENSP00000386679.1:p.Gln260= | |
| ENST00000464089.1:n.264G>A | ||
| NM_000312.3:c.678G>A , LRG_599t1:c.678G>A | NP_000303.1:p.Gln226= | |
| XM_005263715.3:c.861G>A | XP_005263772.1:p.Gln287= | |
| XM_005263716.3:c.843G>A | XP_005263773.1:p.Gln281= | |
| XM_005263717.3:c.741G>A | XP_005263774.1:p.Gln247= | |
| XM_005263717.4:c.741G>A | XP_005263774.1:p.Gln247= | |
| XM_017004505.1:c.921G>A | XP_016859994.1:p.Gln307= | |
| XM_024453002.1:c.1023G>A | XP_024308770.1:p.Gln341= | |
| XM_024453003.1:c.963G>A | XP_024308771.1:p.Gln321= | |
| XM_024453004.1:c.861G>A | XP_024308772.1:p.Gln287= | |
| XM_024453005.1:c.843G>A | XP_024308773.1:p.Gln281= | |
| XM_024453006.1:c.780G>A | XP_024308774.1:p.Gln260= | |
| XR_923313.2:n.4358C>T | ||
| NM_000312.4:c.678G>A MANE Select | NP_000303.1:p.Gln226= | |
| NM_001375602.1:c.861G>A | NP_001362531.1:p.Gln287= | |
| NM_001375603.1:c.843G>A | NP_001362532.1:p.Gln281= | |
| NM_001375604.1:c.741G>A | NP_001362533.1:p.Gln247= | |
| NM_001375605.1:c.780G>A | NP_001362534.1:p.Gln260= | |
| NM_001375606.1:c.846G>A | NP_001362535.1:p.Gln282= | |
| NM_001375607.1:c.864G>A | NP_001362536.1:p.Gln288= | |
| NM_001375608.1:c.621G>A | NP_001362537.1:p.Gln207= | |
| NM_001375609.1:c.654G>A | NP_001362538.1:p.Gln218= | |
| NM_001375610.1:c.672G>A | NP_001362539.1:p.Gln224= | |
| NM_001375611.1:c.678G>A | NP_001362540.1:p.Gln226= | |
| NM_001375613.1:c.678G>A | NP_001362542.1:p.Gln226= |