HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1535715C>G , CM000663.2:g.1535715C>G | GRCh38 |
NC_000001.10:g.1471095C>G , CM000663.1:g.1471095C>G | GRCh37 |
NC_000001.9:g.1460958C>G | NCBI36 |
NG_041807.1:g.9646G>C | |
NG_053035.1:g.28573C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378733.9:c.247G>C MANE Select | ENSP00000368007.4:p.Val83Leu | |
ENST00000378733.8:c.247G>C | ENSP00000368007.4:p.Val83Leu | |
ENST00000425828.1:c.247G>C | ENSP00000400311.1:p.Val83Leu | |
NM_001114748.1:c.247G>C | NP_001108220.1:p.Val83Leu | |
NM_001114748.2:c.247G>C MANE Select | NP_001108220.1:p.Val83Leu |