Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112779646C>G , CM000664.2:g.112779646C>G | GRCh38 |
| NC_000002.11:g.113537223C>G , CM000664.1:g.113537223C>G | GRCh37 |
| NC_000002.10:g.113253694C>G | NCBI36 |
| NG_008850.1:g.10749G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000575.5:c.340G>C MANE Select | NP_000566.3:p.Ala114Pro |
| ENST00000263339.4:c.340G>C MANE Select | ENSP00000263339.3:p.Ala114Pro |
| NM_000575.3:c.340G>C | NP_000566.3:p.Ala114Pro |
| NM_000575.4:c.340G>C | NP_000566.3:p.Ala114Pro |
| NM_001371554.1:c.340G>C | NP_001358483.1:p.Ala114Pro |
| ENST00000263339.3:c.340G>C | ENSP00000263339.3:p.Ala114Pro |