HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91273443G= , CM000676.2:g.91273443G= | GRCh38 |
NC_000014.8:g.91739787G= , CM000676.1:g.91739787G= | GRCh37 |
NC_000014.7:g.90809540G= | NCBI36 |
NG_033118.1:g.149402C= | |
NG_033118.2:g.149402C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389857.11:c.5269C= MANE Select | ENSP00000374507.6:p.Leu1757= | |
ENST00000331194.8:c.841C= | ENSP00000330332.8:p.Leu281= | |
ENST00000389857.10:c.5269C= | ENSP00000374507.6:p.Leu1757= | |
ENST00000556726.5:c.1497C= | ||
NM_001080414.3:c.5269C= | NP_001073883.2:p.Leu1757= | |
XM_011536796.1:c.5161C= | XP_011535098.1:p.Leu1721= | |
XM_011536796.2:c.5161C= | XP_011535098.1:p.Leu1721= | |
XM_017021336.1:c.2350C= | XP_016876825.1:p.Leu784= | |
NM_001080414.4:c.5269C= MANE Select | NP_001073883.2:p.Leu1757= |