HGVS | Genome Assembly |
---|---|
NC_000006.12:g.52186409C>G , CM000668.2:g.52186409C>G | GRCh38 |
NC_000006.11:g.52051207C>G , CM000668.1:g.52051207C>G | GRCh37 |
NC_000006.10:g.52159166C>G | NCBI36 |
NG_033021.1:g.5023C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648244.1:c.-23C>G MANE Select | ENSP00000497968.1:n.-23C>G | |
ENST00000340057.1:c.-23C>G | ENSP00000344192.1:n.-23C>G | |
NM_002190.2:c.-23C>G | NP_002181.1:n.-23C>G | |
NM_002190.3:c.-23C>G MANE Select | NP_002181.1:n.-23C>G |