HGVS | Genome Assembly |
---|---|
NC_000018.10:g.21815631A>C , CM000680.2:g.21815631A>C | GRCh38 |
NC_000018.9:g.19395592A>C , CM000680.1:g.19395592A>C | GRCh37 |
NC_000018.8:g.17649590A>C | NCBI36 |
NG_033272.2:g.115675A>C , LRG_759:g.115675A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261537.7:c.1495A>C MANE Select | ENSP00000261537.6:p.Arg499= | |
ENST00000261537.6:c.1495A>C | ENSP00000261537.6:p.Arg499= | |
ENST00000577749.5:n.480A>C | ||
ENST00000578260.1:n.298A>C | ||
ENST00000578646.5:n.1472A>C | ||
NM_020774.3:c.1495A>C , LRG_759t1:c.1495A>C | NP_065825.1:p.Arg499= | |
XM_011526098.1:c.25A>C | XP_011524400.1:p.Arg9= | |
XR_935234.1:n.2615A>C | ||
XR_935235.1:n.2538A>C | ||
XM_017025873.1:c.979A>C | XP_016881362.1:p.Arg327= | |
NM_020774.4:c.1495A>C MANE Select | NP_065825.1:p.Arg499= |