HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31531174T>A , CM000680.2:g.31531174T>A | GRCh38 |
NC_000018.9:g.29111137T>A , CM000680.1:g.29111137T>A | GRCh37 |
NC_000018.8:g.27365135T>A | NCBI36 |
NG_007072.3:g.37933T>A , LRG_397:g.37933T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000683614.2:n.1033T>A | ||
ENST00000683614.1:c.1033T>A | ||
ENST00000261590.13:c.1202T>A MANE Select | ENSP00000261590.8:p.Met401Lys | |
ENST00000261590.12:c.1202T>A | ENSP00000261590.8:p.Met401Lys | |
NM_001943.3:c.1202T>A , LRG_397t1:c.1202T>A | NP_001934.2:p.Met401Lys | |
NM_001943.4:c.1202T>A | NP_001934.2:p.Met401Lys | |
XM_024451095.1:c.668T>A | XP_024306863.1:p.Met223Lys | |
NM_001943.5:c.1202T>A MANE Select | NP_001934.2:p.Met401Lys |