HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160882115C>G , CM000663.2:g.160882115C>G | GRCh38 |
NC_000001.10:g.160851905C>G , CM000663.1:g.160851905C>G | GRCh37 |
NC_000001.9:g.159118529C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000326245.4:c.247G>C MANE Select | ENSP00000323587.3:p.Ala83Pro | |
ENST00000326245.3:c.247G>C | ENSP00000323587.3:p.Ala83Pro | |
ENST00000464077.1:n.181G>C | ||
NM_017625.2:c.247G>C | NP_060095.2:p.Ala83Pro | |
NM_017625.3:c.247G>C MANE Select | NP_060095.2:p.Ala83Pro |