HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12833780C>G , CM000686.2:g.12833780C>G | GRCh38 |
NC_000024.9:g.14945706C>G , CM000686.1:g.14945706C>G | GRCh37 |
NC_000024.8:g.13455100C>G | NCBI36 |
NG_008311.1:g.137547C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000651177.1:c.5114C>G | ENSP00000498372.1:p.Ala1705Gly | |
ENST00000338981.7:c.5114C>G MANE Select | ENSP00000342812.3:p.Ala1705Gly | |
ENST00000426564.6:n.5126C>G | ||
NM_004654.3:c.5114C>G | NP_004645.2:p.Ala1705Gly | |
XM_011531469.1:c.5114C>G | XP_011529771.1:p.Ala1705Gly | |
XM_011531470.1:c.4880C>G | XP_011529772.1:p.Ala1627Gly | |
XM_017030078.2:c.5129C>G | XP_016885567.1:p.Ala1710Gly | |
NM_004654.4:c.5114C>G MANE Select | NP_004645.2:p.Ala1705Gly |