HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022714A>T , CM000663.2:g.17022714A>T | GRCh38 |
NC_000001.10:g.17349209A>T , CM000663.1:g.17349209A>T | GRCh37 |
NC_000001.9:g.17221796A>T | NCBI36 |
NG_012340.1:g.36457T>A , LRG_316:g.36457T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.488T>A | ENSP00000481376.2:p.Ile163Asn | |
ENST00000491274.6:c.617T>A | ENSP00000480482.2:p.Ile206Asn | |
ENST00000375499.8:c.659T>A MANE Select | ENSP00000364649.3:p.Ile220Asn | |
ENST00000375499.7:c.659T>A | ENSP00000364649.3:p.Ile220Asn | |
ENST00000475049.5:n.84T>A | ||
ENST00000485092.5:n.323T>A | ||
ENST00000485515.5:n.593T>A | ||
NM_003000.2:c.659T>A , LRG_316t1:c.659T>A | NP_002991.2:p.Ile220Asn | |
NM_003000.3:c.659T>A MANE Select | NP_002991.2:p.Ile220Asn |