HGVS | Genome Assembly |
---|---|
NC_000017.11:g.43755637G>T , CM000679.2:g.43755637G>T | GRCh38 |
NC_000017.10:g.41833005G>T , CM000679.1:g.41833005G>T | GRCh37 |
NC_000017.9:g.39188531G>T | NCBI36 |
NG_008078.2:g.8152C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301691.3:c.347C>A MANE Select | ENSP00000301691.1:p.Pro116His | |
ENST00000301691.2:c.347C>A | ENSP00000301691.1:p.Pro116His | |
NM_025237.2:c.347C>A | NP_079513.1:p.Pro116His | |
NM_025237.3:c.347C>A MANE Select | NP_079513.1:p.Pro116His |