HGVS | Genome Assembly |
---|---|
NC_000020.11:g.33408554G>C , CM000682.2:g.33408554G>C | GRCh38 |
NC_000020.10:g.31996360G>C , CM000682.1:g.31996360G>C | GRCh37 |
NC_000020.9:g.31460021G>C | NCBI36 |
NG_011622.1:g.40339C>G , LRG_332:g.40339C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000217381.3:c.1471C>G MANE Select | ENSP00000217381.2:p.His491Asp | |
ENST00000217381.2:c.1471C>G | ENSP00000217381.2:p.His491Asp | |
NM_003098.2:c.1471C>G , LRG_332t1:c.1471C>G | NP_003089.1:p.His491Asp | |
XM_005260517.1:c.1468C>G | XP_005260574.1:p.His490Asp | |
XM_011529007.1:c.*12C>G | XP_011527309.1:n.*12C>G | |
XM_011529008.1:c.*12C>G | XP_011527310.1:n.*12C>G | |
XR_936612.1:n.1507C>G | ||
XM_024451971.1:c.1144C>G | XP_024307739.1:p.His382Asp | |
NM_003098.3:c.1471C>G MANE Select | NP_003089.1:p.His491Asp |