HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52652137A>C , CM000674.2:g.52652137A>C | GRCh38 |
NC_000012.11:g.53045921A>C , CM000674.1:g.53045921A>C | GRCh37 |
NC_000012.10:g.51332188A>C | NCBI36 |
NG_008296.1:g.5039T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309680.4:c.6T>G MANE Select | ENSP00000310861.3:p.Ser2Arg | |
ENST00000309680.3:c.6T>G | ENSP00000310861.3:p.Ser2Arg | |
NM_000423.2:c.6T>G | NP_000414.2:p.Ser2Arg | |
NM_000423.3:c.6T>G MANE Select | NP_000414.2:p.Ser2Arg |