HGVS | Genome Assembly |
---|---|
NC_000005.10:g.177992808C>G , CM000667.2:g.177992808C>G | GRCh38 |
NC_000005.9:g.177419809C>G , CM000667.1:g.177419809C>G | GRCh37 |
NC_000005.8:g.177352415C>G | NCBI36 |
NG_015889.1:g.8435G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308304.2:c.582G>C MANE Select | ENSP00000311290.2:p.Trp194Cys | |
NM_006261.4:c.582G>C | NP_006252.3:p.Trp194Cys | |
NM_006261.5:c.582G>C MANE Select | NP_006252.4:p.Trp194Cys |