Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.167807330C>G , CM000665.2:g.167807330C>G | GRCh38 |
| NC_000003.11:g.167525118C>G , CM000665.1:g.167525118C>G | GRCh37 |
| NC_000003.10:g.169007812C>G | NCBI36 |
| NG_008217.1:g.76687C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001122752.2:c.968C>G MANE Select | NP_001116224.1:p.Thr323Arg |
| ENST00000446050.7:c.968C>G MANE Select | ENSP00000397373.2:p.Thr323Arg |
| NM_001122752.1:c.968C>G | NP_001116224.1:p.Thr323Arg |
| NM_005025.4:c.968C>G | NP_005016.1:p.Thr323Arg |
| NM_005025.5:c.968C>G | NP_005016.1:p.Thr323Arg |
| ENST00000295777.9:c.968C>G | ENSP00000295777.5:p.Thr323Arg |
| ENST00000446050.6:c.968C>G | ENSP00000397373.2:p.Thr323Arg |
| ENST00000466865.1:c.93C>G | |
| ENST00000488374.5:n.164C>G | |
| XM_017006618.2:c.968C>G | XP_016862107.1:p.Thr323Arg |