HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12720692C>A , CM000686.2:g.12720692C>A | GRCh38 |
NC_000024.9:g.14832625C>A , CM000686.1:g.14832625C>A | GRCh37 |
NC_000024.8:g.13342019C>A | NCBI36 |
NG_008311.1:g.24466C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000651177.1:c.200C>A | ENSP00000498372.1:p.Ala67Glu | |
ENST00000338981.7:c.200C>A MANE Select | ENSP00000342812.3:p.Ala67Glu | |
ENST00000426564.6:n.212C>A | ||
ENST00000493168.1:n.276C>A | ||
NM_004654.3:c.200C>A | NP_004645.2:p.Ala67Glu | |
XM_011531469.1:c.200C>A | XP_011529771.1:p.Ala67Glu | |
XM_011531470.1:c.-35C>A | XP_011529772.1:n.-35C>A | |
XM_017030078.2:c.200C>A | XP_016885567.1:p.Ala67Glu | |
NM_004654.4:c.200C>A MANE Select | NP_004645.2:p.Ala67Glu |