HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160130592A>C , CM000663.2:g.160130592A>C | GRCh38 |
NC_000001.10:g.160100382A>C , CM000663.1:g.160100382A>C | GRCh37 |
NC_000001.9:g.158367006A>C | NCBI36 |
NG_008014.1:g.19835A>C , LRG_6:g.19835A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361216.8:c.1822A>C MANE Select | ENSP00000354490.3:p.Ile608Leu | |
ENST00000361216.7:c.1822A>C | ENSP00000354490.3:p.Ile608Leu | |
ENST00000392233.7:c.1822A>C | ENSP00000376066.3:p.Ile608Leu | |
ENST00000447527.1:c.954A>C | ||
ENST00000472488.5:n.1925A>C | ||
NM_000702.3:c.1822A>C | NP_000693.1:p.Ile608Leu | |
NM_000702.4:c.1822A>C MANE Select | NP_000693.1:p.Ile608Leu |