HGVS | Genome Assembly |
---|---|
NC_000006.12:g.29827129T>C , CM000668.2:g.29827129T>C | GRCh38 |
NC_000006.11:g.29794906T>C , CM000668.1:g.29794906T>C | GRCh37 |
NC_000006.10:g.29902885T>C | NCBI36 |
NG_029039.1:g.5151T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000428701.6:n.66+85T>C | ||
ENST00000376828.6:c.6+85T>C | ENSP00000366024.2:n.6+85T>C | |
ENST00000428701.5:c.-113+85T>C | ENSP00000412927.1:n.-113+85T>C | |
NM_002127.5:c.-113+85T>C | NP_002118.1:n.-113+85T>C | |
NM_001363567.1:c.6+85T>C | NP_001350496.1:n.6+85T>C | |
NM_001363567.2:c.6+85T>C | NP_001350496.1:n.6+85T>C | |
NM_001384280.1:c.6+85T>C | NP_001371209.1:n.6+85T>C | |
NM_002127.6:c.-113+85T>C | NP_002118.1:n.-113+85T>C |