HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48474350T>A , CM000677.2:g.48474350T>A | GRCh38 |
NC_000015.9:g.48766547T>A , CM000677.1:g.48766547T>A | GRCh37 |
NC_000015.8:g.46553839T>A | NCBI36 |
NG_008805.2:g.176439A>T , LRG_778:g.176439A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4115A>T | ENSP00000453958.2:p.His1372Leu | |
ENST00000674301.2:c.4115A>T | ENSP00000501333.2:p.His1372Leu | |
ENST00000684448.1:n.2789A>T | ||
ENST00000316623.10:c.4115A>T MANE Select | ENSP00000325527.5:p.His1372Leu | |
ENST00000316623.9:c.4115A>T | ENSP00000325527.5:p.His1372Leu | |
ENST00000537463.6:c.787A>T | ENSP00000440294.2:p.Ile263Leu | |
NM_000138.4:c.4115A>T , LRG_778t1:c.4115A>T | NP_000129.3:p.His1372Leu | |
NM_000138.5:c.4115A>T MANE Select | NP_000129.3:p.His1372Leu |