HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945979C>G , CM000665.2:g.138945979C>G | GRCh38 |
NC_000003.11:g.138664821C>G , CM000665.1:g.138664821C>G | GRCh37 |
NC_000003.10:g.140147511C>G | NCBI36 |
NG_012454.1:g.6162G>C | |
NG_029796.1:g.3746C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.744G>C MANE Select | ENSP00000497217.1:p.Leu248= | |
ENST00000330315.3:c.744G>C | ENSP00000333188.3:p.Leu248= | |
NM_023067.3:c.744G>C | NP_075555.1:p.Leu248= | |
NM_023067.4:c.744G>C MANE Select | NP_075555.1:p.Leu248= |