HGVS | Genome Assembly |
---|---|
NC_000010.11:g.80280311C>A , CM000672.2:g.80280311C>A | GRCh38 |
NC_000010.10:g.82040067C>A , CM000672.1:g.82040067C>A | GRCh37 |
NC_000010.9:g.82030047C>A | NCBI36 |
NG_008083.1:g.14368G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372213.8:c.411G>T MANE Select | ENSP00000361287.3:p.Leu137Phe | |
ENST00000372213.7:c.411G>T | ENSP00000361287.3:p.Leu137Phe | |
ENST00000455001.1:c.222G>T | ENSP00000414961.1:p.Leu74Phe | |
NM_000429.2:c.411G>T | NP_000420.1:p.Leu137Phe | |
XM_005269842.3:c.411G>T | XP_005269899.1:p.Leu137Phe | |
XM_005269843.3:c.288G>T | XP_005269900.1:p.Leu96Phe | |
NM_000429.3:c.411G>T MANE Select | NP_000420.1:p.Leu137Phe |