HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612586G>C , CM000679.2:g.41612586G>C | GRCh38 |
NC_000017.10:g.39768838G>C , CM000679.1:g.39768838G>C | GRCh37 |
NC_000017.9:g.37022364G>C | NCBI36 |
NG_008301.1:g.5242C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.103C>G MANE Select | ENSP00000301653.3:p.Leu35Val | |
ENST00000301653.8:c.103C>G | ENSP00000301653.3:p.Leu35Val | |
ENST00000588319.1:n.180C>G | ||
ENST00000590990.1:c.103C>G | ENSP00000467105.1:p.Leu35Val | |
ENST00000593067.1:c.-313+204C>G | ENSP00000467124.1:n.-313+204C>G | |
NM_005557.3:c.103C>G | NP_005548.2:p.Leu35Val | |
NM_005557.4:c.103C>G MANE Select | NP_005548.2:p.Leu35Val |