HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160882162T>C , CM000663.2:g.160882162T>C | GRCh38 |
NC_000001.10:g.160851952T>C , CM000663.1:g.160851952T>C | GRCh37 |
NC_000001.9:g.159118576T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000326245.4:c.200A>G MANE Select | ENSP00000323587.3:p.Gln67Arg | |
ENST00000326245.3:c.200A>G | ENSP00000323587.3:p.Gln67Arg | |
ENST00000464077.1:n.134A>G | ||
NM_017625.2:c.200A>G | NP_060095.2:p.Gln67Arg | |
NM_017625.3:c.200A>G MANE Select | NP_060095.2:p.Gln67Arg |