HGVS | Genome Assembly |
---|---|
NC_000018.10:g.21815632G>T , CM000680.2:g.21815632G>T | GRCh38 |
NC_000018.9:g.19395593G>T , CM000680.1:g.19395593G>T | GRCh37 |
NC_000018.8:g.17649591G>T | NCBI36 |
NG_033272.2:g.115676G>T , LRG_759:g.115676G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261537.7:c.1496G>T MANE Select | ENSP00000261537.6:p.Arg499Ile | |
ENST00000261537.6:c.1496G>T | ENSP00000261537.6:p.Arg499Ile | |
ENST00000577749.5:n.481G>T | ||
ENST00000578260.1:n.299G>T | ||
ENST00000578646.5:n.1473G>T | ||
NM_020774.3:c.1496G>T , LRG_759t1:c.1496G>T | NP_065825.1:p.Arg499Ile | |
XM_011526098.1:c.26G>T | XP_011524400.1:p.Arg9Ile | |
XR_935234.1:n.2616G>T | ||
XR_935235.1:n.2539G>T | ||
XM_017025873.1:c.980G>T | XP_016881362.1:p.Arg327Ile | |
NM_020774.4:c.1496G>T MANE Select | NP_065825.1:p.Arg499Ile |