HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48610728T>A , CM000677.2:g.48610728T>A | GRCh38 |
NC_000015.9:g.48902925T>A , CM000677.1:g.48902925T>A | GRCh37 |
NC_000015.8:g.46690217T>A | NCBI36 |
NG_008805.2:g.40061A>T , LRG_778:g.40061A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.346A>T | ENSP00000453958.2:p.Ile116Leu | |
ENST00000674301.2:c.346A>T | ENSP00000501333.2:p.Ile116Leu | |
ENST00000316623.10:c.346A>T MANE Select | ENSP00000325527.5:p.Ile116Leu | |
ENST00000316623.9:c.346A>T | ENSP00000325527.5:p.Ile116Leu | |
ENST00000537463.6:c.346A>T | ENSP00000440294.2:p.Ile116Leu | |
NM_000138.4:c.346A>T , LRG_778t1:c.346A>T | NP_000129.3:p.Ile116Leu | |
NM_000138.5:c.346A>T MANE Select | NP_000129.3:p.Ile116Leu |