HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48468511T>A , CM000677.2:g.48468511T>A | GRCh38 |
NC_000015.9:g.48760708T>A , CM000677.1:g.48760708T>A | GRCh37 |
NC_000015.8:g.46548000T>A | NCBI36 |
NG_008805.2:g.182278A>T , LRG_778:g.182278A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4483A>T | ENSP00000453958.2:p.Thr1495Ser | |
ENST00000674301.2:c.4483A>T | ENSP00000501333.2:p.Thr1495Ser | |
ENST00000684448.1:n.3157A>T | ||
ENST00000316623.10:c.4483A>T MANE Select | ENSP00000325527.5:p.Thr1495Ser | |
ENST00000316623.9:c.4483A>T | ENSP00000325527.5:p.Thr1495Ser | |
ENST00000537463.6:c.*246A>T | ENSP00000440294.2:n.*246A>T | |
NM_000138.4:c.4483A>T , LRG_778t1:c.4483A>T | NP_000129.3:p.Thr1495Ser | |
NM_000138.5:c.4483A>T MANE Select | NP_000129.3:p.Thr1495Ser |