HGVS | Genome Assembly |
---|---|
NC_000002.12:g.149570120A>T , CM000664.2:g.149570120A>T | GRCh38 |
NC_000002.11:g.150426634A>T , CM000664.1:g.150426634A>T | GRCh37 |
NC_000002.10:g.150134880A>T | NCBI36 |
NG_009189.1:g.22697T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000303319.10:c.745T>A MANE Select | ENSP00000301920.5:p.Tyr249Asn | |
ENST00000303319.9:c.745T>A | ENSP00000301920.5:p.Tyr249Asn | |
ENST00000422782.2:c.847T>A | ENSP00000408331.2:p.Tyr283Asn | |
ENST00000428879.5:c.745T>A | ENSP00000389060.1:p.Tyr249Asn | |
NM_015702.2:c.745T>A | NP_056517.1:p.Tyr249Asn | |
NM_015702.3:c.745T>A MANE Select | NP_056517.1:p.Tyr249Asn |