HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48472564C>T , CM000677.2:g.48472564C>T | GRCh38 |
NC_000015.9:g.48764761C>T , CM000677.1:g.48764761C>T | GRCh37 |
NC_000015.8:g.46552053C>T | NCBI36 |
NG_008805.2:g.178225G>A , LRG_778:g.178225G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4323G>A | ENSP00000453958.2:p.Gly1441= | |
ENST00000674301.2:c.4323G>A | ENSP00000501333.2:p.Gly1441= | |
ENST00000683268.1:n.290G>A | ||
ENST00000684448.1:n.2997G>A | ||
ENST00000316623.10:c.4323G>A MANE Select | ENSP00000325527.5:p.Gly1441= | |
ENST00000316623.9:c.4323G>A | ENSP00000325527.5:p.Gly1441= | |
ENST00000537463.6:c.*86G>A | ENSP00000440294.2:n.*86G>A | |
NM_000138.4:c.4323G>A , LRG_778t1:c.4323G>A | NP_000129.3:p.Gly1441= | |
NM_000138.5:c.4323G>A MANE Select | NP_000129.3:p.Gly1441= |