HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48468444A>T , CM000677.2:g.48468444A>T | GRCh38 |
NC_000015.9:g.48760641A>T , CM000677.1:g.48760641A>T | GRCh37 |
NC_000015.8:g.46547933A>T | NCBI36 |
NG_008805.2:g.182345T>A , LRG_778:g.182345T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4550T>A | ENSP00000453958.2:p.Phe1517Tyr | |
ENST00000674301.2:c.4550T>A | ENSP00000501333.2:p.Phe1517Tyr | |
ENST00000684448.1:n.3224T>A | ||
ENST00000316623.10:c.4550T>A MANE Select | ENSP00000325527.5:p.Phe1517Tyr | |
ENST00000316623.9:c.4550T>A | ENSP00000325527.5:p.Phe1517Tyr | |
ENST00000537463.6:c.*313T>A | ENSP00000440294.2:n.*313T>A | |
NM_000138.4:c.4550T>A , LRG_778t1:c.4550T>A | NP_000129.3:p.Phe1517Tyr | |
NM_000138.5:c.4550T>A MANE Select | NP_000129.3:p.Phe1517Tyr |