HGVS | Genome Assembly |
---|---|
NC_000013.11:g.110169723A>T , CM000675.2:g.110169723A>T | GRCh38 |
NC_000013.10:g.110822070A>T , CM000675.1:g.110822070A>T | GRCh37 |
NC_000013.9:g.109620071A>T | NCBI36 |
NG_011544.2:g.142427T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375820.10:c.3782T>A MANE Select | ENSP00000364979.4:p.Ile1261Asn | |
ENST00000375820.8:c.3782T>A | ENSP00000364979.4:p.Ile1261Asn | |
NM_001845.5:c.3782T>A | NP_001836.3:p.Ile1261Asn | |
XM_011521048.1:c.3590T>A | XP_011519350.1:p.Ile1197Asn | |
XM_011521048.2:c.3590T>A | XP_011519350.1:p.Ile1197Asn | |
NM_001845.6:c.3782T>A MANE Select | NP_001836.3:p.Ile1261Asn |