HGVS | Genome Assembly |
---|---|
NC_000007.14:g.20164249A>G , CM000669.2:g.20164249A>G | GRCh38 |
NC_000007.13:g.20203872A>G , CM000669.1:g.20203872A>G | GRCh37 |
NC_000007.12:g.20170397A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400331.10:c.-9+7T>C MANE Select | ENSP00000383185.3:n.-9+7T>C | |
ENST00000332878.8:c.-8-2379T>C | ENSP00000328410.4:n.-8-2379T>C | |
ENST00000400331.9:c.-9+7T>C | ENSP00000383185.3:n.-9+7T>C | |
ENST00000589011.1:c.-8-2379T>C | ENSP00000466864.1:n.-8-2379T>C | |
NM_182762.3:c.-9+7T>C | NP_877439.3:n.-9+7T>C | |
NM_182762.4:c.-9+7T>C MANE Select | NP_877439.3:n.-9+7T>C |