HGVS | Genome Assembly |
---|---|
NC_000003.12:g.14130829C>A , CM000665.2:g.14130829C>A | GRCh38 |
NC_000003.11:g.14172329C>A , CM000665.1:g.14172329C>A | GRCh37 |
NC_000003.10:g.14147330C>A | NCBI36 |
NG_008975.1:g.10890C>A , LRG_435:g.10890C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000432444.2:c.*200C>A | ENSP00000395617.1:n.*200C>A | |
ENST00000306077.5:c.170C>A MANE Select | ENSP00000303992.5:p.Ala57Glu | |
ENST00000306077.4:c.170C>A | ENSP00000303992.4:p.Ala57Glu | |
ENST00000432444.1:c.*200C>A | ENSP00000395617.1:n.*200C>A | |
NM_024334.2:c.170C>A , LRG_435t1:c.170C>A | NP_077310.1:p.Ala57Glu | |
XM_011534109.1:c.65C>A | XP_011532411.1:p.Ala22Glu | |
XM_017007176.2:c.65C>A | XP_016862665.1:p.Ala22Glu | |
NM_024334.3:c.170C>A MANE Select | NP_077310.1:p.Ala57Glu |