HGVS | Genome Assembly |
---|---|
NC_000020.11:g.33408809A>C , CM000682.2:g.33408809A>C | GRCh38 |
NC_000020.10:g.31996615A>C , CM000682.1:g.31996615A>C | GRCh37 |
NC_000020.9:g.31460276A>C | NCBI36 |
NG_011622.1:g.40084T>G , LRG_332:g.40084T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000217381.3:c.1317T>G MANE Select | ENSP00000217381.2:p.Gly439= | |
ENST00000217381.2:c.1317T>G | ENSP00000217381.2:p.Gly439= | |
NM_003098.2:c.1317T>G , LRG_332t1:c.1317T>G | NP_003089.1:p.Gly439= | |
XM_005260517.1:c.1317T>G | XP_005260574.1:p.Gly439= | |
XM_011529007.1:c.1349T>G | XP_011527309.1:p.Val450Gly | |
XM_011529008.1:c.1349T>G | XP_011527310.1:p.Val450Gly | |
XR_936612.1:n.1353T>G | ||
XM_024451971.1:c.990T>G | XP_024307739.1:p.Gly330= | |
NM_003098.3:c.1317T>G MANE Select | NP_003089.1:p.Gly439= |