HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48472587C>A , CM000677.2:g.48472587C>A | GRCh38 |
NC_000015.9:g.48764784C>A , CM000677.1:g.48764784C>A | GRCh37 |
NC_000015.8:g.46552076C>A | NCBI36 |
NG_008805.2:g.178202G>T , LRG_778:g.178202G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4300G>T | ENSP00000453958.2:p.Gly1434Cys | |
ENST00000674301.2:c.4300G>T | ENSP00000501333.2:p.Gly1434Cys | |
ENST00000683268.1:n.267G>T | ||
ENST00000684448.1:n.2974G>T | ||
ENST00000316623.10:c.4300G>T MANE Select | ENSP00000325527.5:p.Gly1434Cys | |
ENST00000316623.9:c.4300G>T | ENSP00000325527.5:p.Gly1434Cys | |
ENST00000537463.6:c.*63G>T | ENSP00000440294.2:n.*63G>T | |
NM_000138.4:c.4300G>T , LRG_778t1:c.4300G>T | NP_000129.3:p.Gly1434Cys | |
NM_000138.5:c.4300G>T MANE Select | NP_000129.3:p.Gly1434Cys |