HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173549G>C , CM000678.2:g.173549G>C | GRCh38 |
NC_000016.9:g.223548G>C , CM000678.1:g.223548G>C | GRCh37 |
NC_000016.8:g.163548G>C | NCBI36 |
NG_000006.1:g.34412G>C | |
NG_059186.1:g.1899G>C | |
NG_059271.1:g.5703G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.378G>C MANE Select | ENSP00000251595.6:p.Leu126= | |
ENST00000251595.10:c.378G>C | ENSP00000251595.6:p.Leu126= | |
ENST00000397806.1:c.282G>C | ENSP00000380908.1:p.Leu94= | |
ENST00000482565.1:n.514G>C | ||
NM_000517.4:c.378G>C | NP_000508.1:p.Leu126= | |
NM_000517.6:c.378G>C MANE Select | NP_000508.1:p.Leu126= |