Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740718T>G , CM000666.2:g.67740718T>G | GRCh38 |
| NC_000004.11:g.68606436T>G , CM000666.1:g.68606436T>G | GRCh37 |
| NC_000004.10:g.68289031T>G | NCBI36 |
| NG_009293.1:g.20369A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.749A>C MANE Select | ENSP00000226413.5:p.Gln250Pro | |
| ENST00000226413.4:c.749A>C | ENSP00000226413.4:p.Gln250Pro | |
| ENST00000420975.2:c.621A>C | ENSP00000397561.2:p.Thr207= | |
| NM_000406.2:c.749A>C | NP_000397.1:p.Gln250Pro | |
| NM_001012763.1:c.621A>C | NP_001012781.1:p.Thr207= | |
| NM_000406.3:c.749A>C MANE Select | NP_000397.1:p.Gln250Pro | |
| NM_001012763.2:c.621A>C | NP_001012781.1:p.Thr207= |