HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160130558G>C , CM000663.2:g.160130558G>C | GRCh38 |
NC_000001.10:g.160100348G>C , CM000663.1:g.160100348G>C | GRCh37 |
NC_000001.9:g.158366972G>C | NCBI36 |
NG_008014.1:g.19801G>C , LRG_6:g.19801G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361216.8:c.1788G>C MANE Select | ENSP00000354490.3:p.Val596= | |
ENST00000361216.7:c.1788G>C | ENSP00000354490.3:p.Val596= | |
ENST00000392233.7:c.1788G>C | ENSP00000376066.3:p.Val596= | |
ENST00000447527.1:c.920G>C | ||
ENST00000472488.5:n.1891G>C | ||
NM_000702.3:c.1788G>C | NP_000693.1:p.Val596= | |
NM_000702.4:c.1788G>C MANE Select | NP_000693.1:p.Val596= |