HGVS | Genome Assembly |
---|---|
NC_000006.12:g.52186448C>G , CM000668.2:g.52186448C>G | GRCh38 |
NC_000006.11:g.52051246C>G , CM000668.1:g.52051246C>G | GRCh37 |
NC_000006.10:g.52159205C>G | NCBI36 |
NG_033021.1:g.5062C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648244.1:c.17C>G MANE Select | ENSP00000497968.1:p.Thr6Ser | |
ENST00000340057.1:c.17C>G | ENSP00000344192.1:p.Thr6Ser | |
NM_002190.2:c.17C>G | NP_002181.1:p.Thr6Ser | |
NM_002190.3:c.17C>G MANE Select | NP_002181.1:p.Thr6Ser |