gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.399220G>A , CM000671.2:g.399220G>A | GRCh38 |
| NC_000009.11:g.399220G>A , CM000671.1:g.399220G>A | GRCh37 |
| NC_000009.10:g.389220G>A | NCBI36 |
| NG_017007.1:g.189356G>A , LRG_196:g.189356G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.2895G>A | ENSP00000371766.2:p.Arg965= | |
| ENST00000382331.6:n.1692G>A | ||
| ENST00000682260.1:n.3091G>A | ||
| ENST00000685949.1:n.1983G>A | ||
| ENST00000432829.7:c.3195G>A MANE Select | ENSP00000394888.3:p.Arg1065= | |
| ENST00000382329.1:c.1596G>A | ENSP00000371766.1:p.Arg532= | |
| ENST00000382331.5:c.1101G>A | ENSP00000371768.1:p.Arg367= | |
| ENST00000432829.6:c.3195G>A | ENSP00000394888.3:p.Arg1065= | |
| ENST00000453981.5:c.2991G>A | ENSP00000408464.2:p.Arg997= | |
| ENST00000469391.5:c.2895G>A | ENSP00000419438.1:p.Arg965= | |
| ENST00000495184.5:n.5150G>A | ||
| NM_001190458.1:c.2895G>A | NP_001177387.1:p.Arg965= | |
| NM_001193536.1:c.2991G>A | NP_001180465.1:p.Arg997= | |
| NM_203447.3:c.3195G>A , LRG_196t1:c.3195G>A | NP_982272.2:p.Arg1065= | |
| XM_011518045.1:c.2895G>A | XP_011516347.1:p.Arg965= | |
| XM_011518046.1:c.3057G>A | XP_011516348.1:p.Arg1019= | |
| XM_011518047.1:c.2991G>A | XP_011516349.1:p.Arg997= | |
| XM_011518048.1:c.2991G>A | XP_011516350.1:p.Arg997= | |
| XM_011518049.1:c.1431G>A | XP_011516351.1:p.Arg477= | |
| XM_011518045.3:c.2895G>A | XP_011516347.1:p.Arg965= | |
| XM_011518046.2:c.3057G>A | XP_011516348.1:p.Arg1019= | |
| XM_011518047.3:c.2991G>A | XP_011516349.1:p.Arg997= | |
| XM_011518048.2:c.2991G>A | XP_011516350.1:p.Arg997= | |
| XM_011518049.2:c.1431G>A | XP_011516351.1:p.Arg477= | |
| XM_017015173.1:c.2991G>A | XP_016870662.1:p.Arg997= | |
| XM_017015174.1:c.3057G>A | XP_016870663.1:p.Arg1019= | |
| NM_001190458.2:c.2895G>A | NP_001177387.1:p.Arg965= | |
| NM_001193536.2:c.2991G>A | NP_001180465.1:p.Arg997= | |
| NM_203447.4:c.3195G>A MANE Select | NP_982272.2:p.Arg1065= |