HGVS | Genome Assembly |
---|---|
NC_000005.10:g.150848260T>A , CM000667.2:g.150848260T>A | GRCh38 |
NC_000005.9:g.150227822T>A , CM000667.1:g.150227822T>A | GRCh37 |
NC_000005.8:g.150208015T>A | NCBI36 |
NG_027809.1:g.6738T>A | |
NG_027809.2:g.6738T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000522154.2:c.137T>A MANE Select | ENSP00000428220.1:p.Met46Lys | |
ENST00000522154.1:c.137T>A | ENSP00000428220.1:p.Met46Lys | |
NM_001145805.1:c.137T>A | NP_001139277.1:p.Met46Lys | |
XM_011537641.1:c.137T>A | XP_011535943.1:p.Met46Lys | |
NM_001346557.1:c.137T>A | NP_001333486.1:p.Met46Lys | |
NM_001346557.2:c.137T>A | NP_001333486.1:p.Met46Lys | |
NM_001145805.2:c.137T>A MANE Select | NP_001139277.1:p.Met46Lys | |
NR_170598.1:n.1252T>A |