HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41583201G>C , CM000679.2:g.41583201G>C | GRCh38 |
NC_000017.10:g.39739453G>C , CM000679.1:g.39739453G>C | GRCh37 |
NC_000017.9:g.36992979G>C | NCBI36 |
NG_008624.1:g.8695C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000167586.7:c.1274+34C>G MANE Select | ENSP00000167586.6:n.1274+34C>G | |
ENST00000167586.6:c.1274+34C>G | ENSP00000167586.6:n.1274+34C>G | |
ENST00000441550.2:n.221+34C>G | ||
NM_000526.4:c.1274+34C>G | NP_000517.2:n.1274+34C>G | |
NM_000526.5:c.1274+34C>G MANE Select | NP_000517.3:n.1274+34C>G |