HGVS | Genome Assembly |
---|---|
NC_000001.11:g.149927557A>C , CM000663.2:g.149927557A>C | GRCh38 |
NC_000001.10:g.149899449A>C , CM000663.1:g.149899449A>C | GRCh37 |
NC_000001.9:g.148166073A>C | NCBI36 |
NG_032777.1:g.5696T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000271628.9:c.34+169T>G MANE Select | ENSP00000271628.8:n.34+169T>G | |
ENST00000271628.8:c.34+169T>G | ENSP00000271628.8:n.34+169T>G | |
ENST00000457312.1:c.-221T>G | ENSP00000391114.1:n.-221T>G | |
NM_005850.4:c.34+169T>G | NP_005841.1:n.34+169T>G | |
NM_005850.5:c.34+169T>G MANE Select | NP_005841.1:n.34+169T>G |