Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74749049A>C , CM000679.2:g.74749049A>C | GRCh38 |
| NC_000017.10:g.72745188A>C , CM000679.1:g.72745188A>C | GRCh37 |
| NC_000017.9:g.70256783A>C | NCBI36 |
| NG_013022.1:g.5426A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004252.5:c.203A>C MANE Select | NP_004243.1:p.Glu68Ala |
| ENST00000262613.10:c.203A>C MANE Select | ENSP00000262613.5:p.Glu68Ala |
| NM_004252.4:c.203A>C | NP_004243.1:p.Glu68Ala |
| ENST00000262613.9:c.203A>C | ENSP00000262613.5:p.Glu68Ala |
| ENST00000583369.5:c.203A>C | ENSP00000464321.1:p.Glu68Ala |
| XR_002958087.1:n.422A>C |