Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814417G>T , CM000664.2:g.218814417G>T | GRCh38 |
| NC_000002.11:g.219679140G>T , CM000664.1:g.219679140G>T | GRCh37 |
| NC_000002.10:g.219387384G>T | NCBI36 |
| NG_007959.1:g.37669G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000784.4:c.1222G>T MANE Select | NP_000775.1:p.Glu408Ter |
| ENST00000258415.9:c.1222G>T MANE Select | ENSP00000258415.4:p.Glu408Ter |
| NM_000784.3:c.1222G>T | NP_000775.1:p.Glu408Ter |
| ENST00000258415.8:c.1222G>T | ENSP00000258415.4:p.Glu408Ter |
| ENST00000494263.5:n.1848G>T | |
| XM_017003488.2:c.802G>T | XP_016858977.1:p.Glu268Ter |