Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160884870T>G , CM000663.2:g.160884870T>G | GRCh38 |
| NC_000001.10:g.160854660T>G , CM000663.1:g.160854660T>G | GRCh37 |
| NC_000001.9:g.159121284T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017625.3:c.8A>C MANE Select | NP_060095.2:p.Gln3Pro |
| ENST00000326245.4:c.8A>C MANE Select | ENSP00000323587.3:p.Gln3Pro |
| NM_017625.2:c.8A>C | NP_060095.2:p.Gln3Pro |
| ENST00000326245.3:c.8A>C | ENSP00000323587.3:p.Gln3Pro |