Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151316877G>A , CM000667.2:g.151316877G>A | GRCh38 |
| NC_000005.9:g.150696438G>A , CM000667.1:g.150696438G>A | GRCh37 |
| NC_000005.8:g.150676631G>A | NCBI36 |
| NG_027745.1:g.35714C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181776.3:c.1392C>T MANE Select | NP_861441.2:p.Asp464= |
| ENST00000335244.9:c.1392C>T MANE Select | ENSP00000334223.4:p.Asp464= |
| NM_181776.2:c.1392C>T | NP_861441.2:p.Asp464= |
| ENST00000335244.8:c.1392C>T | ENSP00000334223.4:p.Asp464= |
| ENST00000518280.5:c.*863C>T | ENSP00000428453.1:n.*863C>T |
| ENST00000518617.5:c.*960C>T | ENSP00000430149.1:n.*960C>T |
| XM_006714756.2:c.1293C>T | XP_006714819.1:p.Asp431= |
| XM_006714756.4:c.1293C>T | XP_006714819.1:p.Asp431= |
| XM_017009084.1:c.798C>T | XP_016864573.1:p.Asp266= |