gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119815812C>A , CM000665.2:g.119815812C>A | GRCh38 |
| NC_000003.11:g.119534659C>A , CM000665.1:g.119534659C>A | GRCh37 |
| NC_000003.10:g.121017349C>A | NCBI36 |
| NG_011856.1:g.40329C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393716.8:c.1141C>A MANE Select | ENSP00000377319.3:p.Arg381= | |
| ENST00000466380.6:c.1030C>A | ENSP00000420297.2:p.Arg344= | |
| ENST00000337940.4:c.1258C>A | ENSP00000336528.4:p.Arg420= | |
| ENST00000393716.6:c.1141C>A | ENSP00000377319.2:p.Arg381= | |
| ENST00000466380.5:c.1030C>A | ENSP00000420297.1:p.Arg344= | |
| ENST00000493757.1:n.1273C>A | ||
| NM_003889.3:c.1141C>A | NP_003880.3:p.Arg381= | |
| NM_022002.2:c.1258C>A | NP_071285.1:p.Arg420= | |
| NM_033013.2:c.1030C>A | NP_148934.1:p.Arg344= | |
| NM_003889.4:c.1141C>A MANE Select | NP_003880.3:p.Arg381= | |
| NM_022002.3:c.1258C>A | NP_071285.1:p.Arg420= | |
| NM_033013.3:c.1030C>A | NP_148934.1:p.Arg344= |