HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160127650G>C , CM000663.2:g.160127650G>C | GRCh38 |
NC_000001.10:g.160097440G>C , CM000663.1:g.160097440G>C | GRCh37 |
NC_000001.9:g.158364064G>C | NCBI36 |
NG_008014.1:g.16893G>C , LRG_6:g.16893G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361216.8:c.847G>C MANE Select | ENSP00000354490.3:p.Ala283Pro | |
ENST00000361216.7:c.847G>C | ENSP00000354490.3:p.Ala283Pro | |
ENST00000392233.7:c.847G>C | ENSP00000376066.3:p.Ala283Pro | |
ENST00000472488.5:n.950G>C | ||
NM_000702.3:c.847G>C | NP_000693.1:p.Ala283Pro | |
NM_000702.4:c.847G>C MANE Select | NP_000693.1:p.Ala283Pro |