HGVS | Genome Assembly |
---|---|
NC_000001.11:g.58576810G>C , CM000663.2:g.58576810G>C | GRCh38 |
NC_000001.10:g.59042482G>C , CM000663.1:g.59042482G>C | GRCh37 |
NC_000001.9:g.58815070G>C | NCBI36 |
NG_016237.1:g.5685C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371225.4:c.347C>G MANE Select | ENSP00000360269.2:p.Ala116Gly | |
ENST00000371225.3:c.347C>G | ENSP00000360269.2:p.Ala116Gly | |
NM_002353.2:c.347C>G | NP_002344.2:p.Ala116Gly | |
NM_002353.3:c.347C>G MANE Select | NP_002344.2:p.Ala116Gly |