HGVS | Genome Assembly |
---|---|
NC_000001.11:g.186672659T>C , CM000663.2:g.186672659T>C | GRCh38 |
NC_000001.10:g.186641791T>C , CM000663.1:g.186641791T>C | GRCh37 |
NC_000001.9:g.184908414T>C | NCBI36 |
NG_028206.2:g.12769A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367468.10:c.*1694A>G MANE Select | ENSP00000356438.5:n.*1694A>G | |
ENST00000680451.1:c.*1694A>G | ENSP00000506242.1:n.*1694A>G | |
ENST00000681605.1:c.*3181A>G | ENSP00000504900.1:n.*3181A>G | |
ENST00000367468.9:c.*1694A>G | ENSP00000356438.5:n.*1694A>G | |
NM_000963.3:c.*1694A>G | NP_000954.1:n.*1694A>G | |
NM_000963.4:c.*1694A>G MANE Select | NP_000954.1:n.*1694A>G |