HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37713409G>C , CM000684.2:g.37713409G>C | GRCh38 |
NC_000022.10:g.38109416G>C , CM000684.1:g.38109416G>C | GRCh37 |
NC_000022.9:g.36439362G>C | NCBI36 |
NG_012857.1:g.21422G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.454G>C MANE Select | ENSP00000496394.1:p.Val152Leu | |
ENST00000344404.10:c.255-2354G>C | ENSP00000340312.6:n.255-2354G>C | |
ENST00000406386.7:c.454G>C | ENSP00000384312.3:p.Val152Leu | |
ENST00000455236.4:c.1411G>C | ENSP00000477208.1:n.1411G>C | |
ENST00000492485.5:n.391-2354G>C | ||
NM_001039141.2:c.454G>C | NP_001034230.1:p.Val152Leu | |
NM_001039141.3:c.454G>C MANE Select | NP_001034230.1:p.Val152Leu |