HGVS | Genome Assembly |
---|---|
NC_000006.12:g.149513438T>C , CM000668.2:g.149513438T>C | GRCh38 |
NC_000006.11:g.149834574T>C , CM000668.1:g.149834574T>C | GRCh37 |
NC_000006.10:g.149876267T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000253329.3:c.1080-1136A>G MANE Select | ENSP00000253329.2:n.1080-1136A>G | |
ENST00000253329.2:c.1080-1136A>G | ENSP00000253329.2:n.1080-1136A>G | |
ENST00000340881.2:c.-23-1136A>G | ENSP00000344128.2:n.-23-1136A>G | |
NM_139126.3:c.1080-1136A>G | NP_624311.1:n.1080-1136A>G | |
NM_139126.4:c.1080-1136A>G MANE Select | NP_624311.1:n.1080-1136A>G |