Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.44542816G>T , CM000685.2:g.44542816G>T | GRCh38 |
| NC_000023.10:g.44402062G>T , CM000685.1:g.44402062G>T | GRCh37 |
| NC_000023.9:g.44287006G>T | NCBI36 |
| NG_021288.1:g.5160C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173794.4:c.17C>A MANE Select | NP_776155.1:p.Pro6His |
| ENST00000378045.5:c.17C>A MANE Select | ENSP00000367284.4:p.Pro6His |
| NM_173794.3:c.17C>A | NP_776155.1:p.Pro6His |
| ENST00000378045.4:c.17C>A | ENSP00000367284.4:p.Pro6His |