HGVS | Genome Assembly |
---|---|
NC_000006.12:g.52186447A>G , CM000668.2:g.52186447A>G | GRCh38 |
NC_000006.11:g.52051245A>G , CM000668.1:g.52051245A>G | GRCh37 |
NC_000006.10:g.52159204A>G | NCBI36 |
NG_033021.1:g.5061A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648244.1:c.16A>G MANE Select | ENSP00000497968.1:p.Thr6Ala | |
ENST00000340057.1:c.16A>G | ENSP00000344192.1:p.Thr6Ala | |
NM_002190.2:c.16A>G | NP_002181.1:p.Thr6Ala | |
NM_002190.3:c.16A>G MANE Select | NP_002181.1:p.Thr6Ala |