gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811590C>A , CM000677.2:g.71811590C>A | GRCh38 |
| NC_000015.9:g.72103930C>A , CM000677.1:g.72103930C>A | GRCh37 |
| NC_000015.8:g.69890984C>A | NCBI36 |
| NG_009113.2:g.6036C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.226C>A MANE Select | ENSP00000482504.1:p.Arg76= | |
| ENST00000617575.4:c.226C>A | ENSP00000482504.1:p.Arg76= | |
| ENST00000621098.1:c.226C>A | ENSP00000479962.1:p.Arg76= | |
| ENST00000621736.4:c.-39C>A | ENSP00000479254.1:n.-39C>A | |
| NM_014249.3:c.226C>A | NP_055064.1:p.Arg76= | |
| NM_016346.3:c.226C>A | NP_057430.1:p.Arg76= | |
| XM_011521146.1:c.-39C>A | XP_011519448.1:n.-39C>A | |
| NM_014249.4:c.226C>A MANE Select | NP_055064.1:p.Arg76= | |
| NM_016346.4:c.226C>A | NP_057430.1:p.Arg76= |