HGVS | Genome Assembly |
---|---|
NC_000020.11:g.33408813G>T , CM000682.2:g.33408813G>T | GRCh38 |
NC_000020.10:g.31996619G>T , CM000682.1:g.31996619G>T | GRCh37 |
NC_000020.9:g.31460280G>T | NCBI36 |
NG_011622.1:g.40080C>A , LRG_332:g.40080C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000217381.3:c.1313C>A MANE Select | ENSP00000217381.2:p.Pro438Gln | |
ENST00000217381.2:c.1313C>A | ENSP00000217381.2:p.Pro438Gln | |
NM_003098.2:c.1313C>A , LRG_332t1:c.1313C>A | NP_003089.1:p.Pro438Gln | |
XM_005260517.1:c.1313C>A | XP_005260574.1:p.Pro438Gln | |
XM_011529007.1:c.1345C>A | XP_011527309.1:p.Gln449Lys | |
XM_011529008.1:c.1345C>A | XP_011527310.1:p.Gln449Lys | |
XR_936612.1:n.1349C>A | ||
XM_024451971.1:c.986C>A | XP_024307739.1:p.Pro329Gln | |
NM_003098.3:c.1313C>A MANE Select | NP_003089.1:p.Pro438Gln |