HGVS | Genome Assembly |
---|---|
NC_000020.11:g.33408750T>A , CM000682.2:g.33408750T>A | GRCh38 |
NC_000020.10:g.31996556T>A , CM000682.1:g.31996556T>A | GRCh37 |
NC_000020.9:g.31460217T>A | NCBI36 |
NG_011622.1:g.40143A>T , LRG_332:g.40143A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000217381.3:c.1376A>T MANE Select | ENSP00000217381.2:p.Asp459Val | |
ENST00000217381.2:c.1376A>T | ENSP00000217381.2:p.Asp459Val | |
NM_003098.2:c.1376A>T , LRG_332t1:c.1376A>T | NP_003089.1:p.Asp459Val | |
XM_005260517.1:c.1376A>T | XP_005260574.1:p.Asp459Val | |
XM_011529007.1:c.1408A>T | XP_011527309.1:p.Thr470Ser | |
XM_011529008.1:c.1408A>T | XP_011527310.1:p.Thr470Ser | |
XR_936612.1:n.1412A>T | ||
XM_024451971.1:c.1049A>T | XP_024307739.1:p.Asp350Val | |
NM_003098.3:c.1376A>T MANE Select | NP_003089.1:p.Asp459Val |