Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47733664C>A , CM000679.2:g.47733664C>A | GRCh38 |
| NC_000017.10:g.45811030C>A , CM000679.1:g.45811030C>A | GRCh37 |
| NC_000017.9:g.43166029C>A | NCBI36 |
| NG_012166.1:g.5421C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000177694.2:c.210C>A MANE Select | ENSP00000177694.1:p.Arg70= | |
| ENST00000177694.1:c.210C>A | ENSP00000177694.1:p.Arg70= | |
| ENST00000581328.1:n.240C>A | ||
| NM_013351.1:c.210C>A | NP_037483.1:p.Arg70= | |
| XM_011524698.1:c.210C>A | XP_011523000.1:p.Arg70= | |
| NM_013351.2:c.210C>A MANE Select | NP_037483.1:p.Arg70= |