Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44375616G>T , CM000679.2:g.44375616G>T | GRCh38 |
| NC_000017.10:g.42452984G>T , CM000679.1:g.42452984G>T | GRCh37 |
| NC_000017.9:g.39808510G>T | NCBI36 |
| NG_008331.1:g.18890C>A , LRG_479:g.18890C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000419.5:c.2702C>A MANE Select | NP_000410.2:p.Ser901Ter |
| ENST00000262407.6:c.2702C>A MANE Select | ENSP00000262407.5:p.Ser901Ter |
| NM_000419.3:c.2702C>A , LRG_479t1:c.2702C>A | NP_000410.2:p.Ser901Ter |
| NM_000419.4:c.2702C>A | NP_000410.2:p.Ser901Ter |
| ENST00000262407.5:c.2702C>A | ENSP00000262407.5:p.Ser901Ter |
| ENST00000587295.5:c.253+217C>A | |
| ENST00000592462.5:n.1497C>A | |
| ENST00000648408.1:c.2133C>A | |
| XM_011524749.1:c.2702C>A | XP_011523051.1:p.Ser901Ter |
| XM_011524750.1:c.2702C>A | XP_011523052.1:p.Ser901Ter |