Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740710G>A , CM000666.2:g.67740710G>A | GRCh38 |
| NC_000004.11:g.68606428G>A , CM000666.1:g.68606428G>A | GRCh37 |
| NC_000004.10:g.68289023G>A | NCBI36 |
| NG_009293.1:g.20377C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.757C>T MANE Select | ENSP00000226413.5:p.Gln253Ter | |
| ENST00000226413.4:c.757C>T | ENSP00000226413.4:p.Gln253Ter | |
| ENST00000420975.2:c.629C>T | ENSP00000397561.2:p.Ser210Leu | |
| NM_000406.2:c.757C>T | NP_000397.1:p.Gln253Ter | |
| NM_001012763.1:c.629C>T | NP_001012781.1:p.Ser210Leu | |
| NM_000406.3:c.757C>T MANE Select | NP_000397.1:p.Gln253Ter | |
| NM_001012763.2:c.629C>T | NP_001012781.1:p.Ser210Leu |