HGVS | Genome Assembly |
---|---|
NC_000002.12:g.149569999A>T , CM000664.2:g.149569999A>T | GRCh38 |
NC_000002.11:g.150426513A>T , CM000664.1:g.150426513A>T | GRCh37 |
NC_000002.10:g.150134759A>T | NCBI36 |
NG_009189.1:g.22818T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303319.10:c.866T>A MANE Select | ENSP00000301920.5:p.Ile289Asn | |
ENST00000303319.9:c.866T>A | ENSP00000301920.5:p.Ile289Asn | |
ENST00000422782.2:c.968T>A | ENSP00000408331.2:p.Ile323Asn | |
ENST00000428879.5:c.866T>A | ENSP00000389060.1:p.Ile289Asn | |
NM_015702.2:c.866T>A | NP_056517.1:p.Ile289Asn | |
NM_015702.3:c.866T>A MANE Select | NP_056517.1:p.Ile289Asn |