HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269993C>A , CM000668.2:g.31269993C>A | GRCh38 |
NC_000006.11:g.31237770C>A , CM000668.1:g.31237770C>A | GRCh37 |
NC_000006.10:g.31345749C>A | NCBI36 |
NG_029422.2:g.7139G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.988G>T MANE Select | ENSP00000365402.5:p.Ala330Ser | |
ENST00000376228.9:c.988G>T | ENSP00000365402.5:p.Ala330Ser | |
ENST00000376237.8:c.*575G>T | ENSP00000365412.4:n.*575G>T | |
ENST00000383329.7:c.988G>T | ENSP00000372819.3:p.Ala330Ser | |
ENST00000470363.5:n.306G>T | ||
ENST00000487245.5:n.1347G>T | ||
NM_002117.5:c.988G>T | NP_002108.4:p.Ala330Ser | |
NM_002117.6:c.988G>T MANE Select | NP_002108.4:p.Ala330Ser |