HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63941956C>T , CM000679.2:g.63941956C>T | GRCh38 |
NC_000017.10:g.62019316C>T , CM000679.1:g.62019316C>T | GRCh37 |
NC_000017.9:g.59373048C>T | NCBI36 |
NG_011699.1:g.35963G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000435607.3:c.4326G>A MANE Select | ENSP00000396320.1:p.Val1442= | |
ENST00000578147.5:c.4326G>A | ENSP00000463963.1:p.Val1442= | |
NM_000334.4:c.4326G>A MANE Select | NP_000325.4:p.Val1442= | |
XM_005257566.3:c.4326G>A | XP_005257623.1:p.Val1442= |