HGVS | Genome Assembly |
---|---|
NC_000010.11:g.80273840A>T , CM000672.2:g.80273840A>T | GRCh38 |
NC_000010.10:g.82033596A>T , CM000672.1:g.82033596A>T | GRCh37 |
NC_000010.9:g.82023576A>T | NCBI36 |
NG_008083.1:g.20839T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372213.8:c.1129T>A MANE Select | ENSP00000361287.3:p.Tyr377Asn | |
ENST00000372213.7:c.1129T>A | ENSP00000361287.3:p.Tyr377Asn | |
ENST00000480845.1:n.361T>A | ||
ENST00000485270.5:n.641T>A | ||
NM_000429.2:c.1129T>A | NP_000420.1:p.Tyr377Asn | |
XM_005269842.3:c.1129T>A | XP_005269899.1:p.Tyr377Asn | |
XM_005269843.3:c.1006T>A | XP_005269900.1:p.Tyr336Asn | |
NM_000429.3:c.1129T>A MANE Select | NP_000420.1:p.Tyr377Asn |