Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354024C>A , CM000666.2:g.40354024C>A | GRCh38 |
| NC_000004.11:g.40356041C>A , CM000666.1:g.40356041C>A | GRCh37 |
| NC_000004.10:g.40050798C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017581.4:c.944C>A MANE Select | NP_060051.2:p.Ala315Glu |
| ENST00000310169.3:c.944C>A MANE Select | ENSP00000312663.2:p.Ala315Glu |
| NM_017581.3:c.944C>A | NP_060051.2:p.Ala315Glu |
| ENST00000310169.2:c.944C>A | ENSP00000312663.2:p.Ala315Glu |
| ENST00000509518.1:n.395C>A |