HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48472577G>A , CM000677.2:g.48472577G>A | GRCh38 |
NC_000015.9:g.48764774G>A , CM000677.1:g.48764774G>A | GRCh37 |
NC_000015.8:g.46552066G>A | NCBI36 |
NG_008805.2:g.178212C>T , LRG_778:g.178212C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4310C>T | ENSP00000453958.2:p.Pro1437Leu | |
ENST00000674301.2:c.4310C>T | ENSP00000501333.2:p.Pro1437Leu | |
ENST00000683268.1:n.277C>T | ||
ENST00000684448.1:n.2984C>T | ||
ENST00000316623.10:c.4310C>T MANE Select | ENSP00000325527.5:p.Pro1437Leu | |
ENST00000316623.9:c.4310C>T | ENSP00000325527.5:p.Pro1437Leu | |
ENST00000537463.6:c.*73C>T | ENSP00000440294.2:n.*73C>T | |
NM_000138.4:c.4310C>T , LRG_778t1:c.4310C>T | NP_000129.3:p.Pro1437Leu | |
NM_000138.5:c.4310C>T MANE Select | NP_000129.3:p.Pro1437Leu |