Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112779646C>T , CM000664.2:g.112779646C>T | GRCh38 |
| NC_000002.11:g.113537223C>T , CM000664.1:g.113537223C>T | GRCh37 |
| NC_000002.10:g.113253694C>T | NCBI36 |
| NG_008850.1:g.10749G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000575.5:c.340G>A MANE Select | NP_000566.3:p.Ala114Thr |
| ENST00000263339.4:c.340G>A MANE Select | ENSP00000263339.3:p.Ala114Thr |
| NM_000575.3:c.340G>A | NP_000566.3:p.Ala114Thr |
| NM_000575.4:c.340G>A | NP_000566.3:p.Ala114Thr |
| NM_001371554.1:c.340G>A | NP_001358483.1:p.Ala114Thr |
| ENST00000263339.3:c.340G>A | ENSP00000263339.3:p.Ala114Thr |