HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215779701A>C , CM000663.2:g.215779701A>C | GRCh38 |
NC_000001.10:g.215953043A>C , CM000663.1:g.215953043A>C | GRCh37 |
NC_000001.9:g.214019666A>C | NCBI36 |
NG_009497.1:g.648696T>G | |
NG_009497.2:g.648748T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.10939+142T>G MANE Select | ENSP00000305941.3:n.10939+142T>G | |
ENST00000674083.1:c.10939+142T>G | ENSP00000501296.1:n.10939+142T>G | |
ENST00000307340.7:c.10939+142T>G | ENSP00000305941.3:n.10939+142T>G | |
NM_206933.2:c.10939+142T>G | NP_996816.2:n.10939+142T>G | |
NM_206933.3:c.10939+142T>G | NP_996816.2:n.10939+142T>G | |
NM_206933.4:c.10939+142T>G MANE Select | NP_996816.3:n.10939+142T>G |