HGVS | Genome Assembly |
---|---|
NC_000001.11:g.149927547T>C , CM000663.2:g.149927547T>C | GRCh38 |
NC_000001.10:g.149899439T>C , CM000663.1:g.149899439T>C | GRCh37 |
NC_000001.9:g.148166063T>C | NCBI36 |
NG_032777.1:g.5706A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000271628.9:c.34+179A>G MANE Select | ENSP00000271628.8:n.34+179A>G | |
ENST00000271628.8:c.34+179A>G | ENSP00000271628.8:n.34+179A>G | |
ENST00000457312.1:c.-211A>G | ENSP00000391114.1:n.-211A>G | |
NM_005850.4:c.34+179A>G | NP_005841.1:n.34+179A>G | |
NM_005850.5:c.34+179A>G MANE Select | NP_005841.1:n.34+179A>G |