HGVS | Genome Assembly |
---|---|
NC_000019.10:g.15897163G>C , CM000681.2:g.15897163G>C | GRCh38 |
NC_000019.9:g.16007973G>C , CM000681.1:g.16007973G>C | GRCh37 |
NC_000019.8:g.15868973G>C | NCBI36 |
NG_007971.2:g.5912C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221700.11:c.198+251C>G MANE Select | ENSP00000221700.3:n.198+251C>G | |
ENST00000011989.11:c.198+251C>G | ENSP00000011989.8:n.198+251C>G | |
ENST00000221700.10:c.198+251C>G | ENSP00000221700.3:n.198+251C>G | |
ENST00000392846.7:n.49+863C>G | ||
ENST00000586927.2:c.198+251C>G | ENSP00000465514.1:n.198+251C>G | |
ENST00000587671.2:c.198+251C>G | ENSP00000467443.2:n.198+251C>G | |
ENST00000608168.1:n.251+251C>G | ||
NM_001082.4:c.198+251C>G | NP_001073.3:n.198+251C>G | |
NM_001082.5:c.198+251C>G MANE Select | NP_001073.3:n.198+251C>G |