HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86739754G>C , CM000670.2:g.86739754G>C | GRCh38 |
NC_000008.10:g.87751982G>C , CM000670.1:g.87751982G>C | GRCh37 |
NC_000008.9:g.87821098G>C | NCBI36 |
NG_016980.1:g.8922C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320005.6:c.130-18C>G MANE Select | ENSP00000316605.5:n.130-18C>G | |
ENST00000681746.1:c.130-18C>G | ENSP00000505959.1:n.130-18C>G | |
ENST00000320005.5:c.130-18C>G | ENSP00000316605.5:n.130-18C>G | |
ENST00000519777.1:n.112-18C>G | ||
NM_019098.4:c.130-18C>G | NP_061971.3:n.130-18C>G | |
NM_019098.5:c.130-18C>G MANE Select | NP_061971.3:n.130-18C>G |