HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945664G>C , CM000665.2:g.138945664G>C | GRCh38 |
NC_000003.11:g.138664506G>C , CM000665.1:g.138664506G>C | GRCh37 |
NC_000003.10:g.140147196G>C | NCBI36 |
NG_012454.1:g.6477C>G | |
NG_029796.1:g.3431G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.1059C>G MANE Select | ENSP00000497217.1:p.Leu353= | |
ENST00000330315.3:c.1059C>G | ENSP00000333188.3:p.Leu353= | |
NM_023067.3:c.1059C>G | NP_075555.1:p.Leu353= | |
NM_023067.4:c.1059C>G MANE Select | NP_075555.1:p.Leu353= |