HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4631958C>G , CM000679.2:g.4631958C>G | GRCh38 |
NC_000017.10:g.4535253C>G , CM000679.1:g.4535253C>G | GRCh37 |
NC_000017.9:g.4482002C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293761.8:c.1740G>C MANE Select | ENSP00000293761.3:p.Leu580= | |
ENST00000570836.6:c.1740G>C | ENSP00000458832.1:p.Leu580= | |
ENST00000293761.7:c.1740G>C | ENSP00000293761.3:p.Leu580= | |
ENST00000570836.5:c.1740G>C | ENSP00000458832.1:p.Leu580= | |
ENST00000574640.1:c.1623G>C | ENSP00000460483.1:p.Leu541= | |
NM_001140.3:c.1740G>C | NP_001131.3:p.Leu580= | |
NM_001140.4:c.1740G>C | NP_001131.3:p.Leu580= | |
NM_001140.5:c.1740G>C MANE Select | NP_001131.3:p.Leu580= |