Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96538660A>C , CM000668.2:g.96538660A>C | GRCh38 |
| NC_000006.11:g.96986536A>C , CM000668.1:g.96986536A>C | GRCh37 |
| NC_000006.10:g.97093257A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015323.5:c.1008A>C MANE Select | NP_056138.1:p.Glu336Asp |
| ENST00000369278.5:c.1008A>C MANE Select | ENSP00000358283.4:p.Glu336Asp |
| NM_015323.4:c.1008A>C | NP_056138.1:p.Glu336Asp |
| ENST00000369278.4:c.1008A>C | ENSP00000358283.4:p.Glu336Asp |