Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64615891A>T , CM000670.2:g.64615891A>T | GRCh38 |
| NC_000008.10:g.65528448A>T , CM000670.1:g.65528448A>T | GRCh37 |
| NC_000008.9:g.65691002A>T | NCBI36 |
| NG_008338.1:g.187901T>A | |
| NG_008338.2:g.187901T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004820.5:c.650T>A MANE Select | NP_004811.1:p.Leu217Ter |
| ENST00000310193.4:c.650T>A MANE Select | ENSP00000310721.3:p.Leu217Ter |
| NM_001324112.1:c.650T>A | NP_001311041.1:p.Leu217Ter |
| NM_001324112.2:c.650T>A | NP_001311041.1:p.Leu217Ter |
| NM_004820.3:c.650T>A | NP_004811.1:p.Leu217Ter |
| NM_004820.4:c.650T>A | NP_004811.1:p.Leu217Ter |
| ENST00000310193.3:c.650T>A | ENSP00000310721.3:p.Leu217Ter |
| XM_017014002.1:c.716T>A | XP_016869491.1:p.Leu239Ter |