HGVS | Genome Assembly |
---|---|
NC_000002.12:g.84431652T>A , CM000664.2:g.84431652T>A | GRCh38 |
NC_000002.11:g.84658776T>A , CM000664.1:g.84658776T>A | GRCh37 |
NC_000002.10:g.84512287T>A | NCBI36 |
NG_016755.1:g.32811A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393868.7:c.681A>T MANE Select | ENSP00000377446.2:p.Gly227= | |
ENST00000651342.1:c.*121A>T | ENSP00000498471.1:n.*121A>T | |
ENST00000393868.6:c.681A>T | ENSP00000377446.2:p.Gly227= | |
ENST00000487809.1:n.428A>T | ||
ENST00000491123.5:n.527A>T | ||
NM_003849.3:c.681A>T | NP_003840.2:p.Gly227= | |
NM_003849.4:c.681A>T MANE Select | NP_003840.2:p.Gly227= |