HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6022277G>C , CM000674.2:g.6022277G>C | GRCh38 |
NC_000012.11:g.6131443G>C , CM000674.1:g.6131443G>C | GRCh37 |
NC_000012.10:g.6001704G>C | NCBI36 |
NG_009072.1:g.107394C>G | |
NG_009072.2:g.107394C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.3539-242C>G MANE Select | ENSP00000261405.5:n.3539-242C>G | |
ENST00000261405.9:c.3539-242C>G | ENSP00000261405.5:n.3539-242C>G | |
ENST00000538635.5:n.421-28343C>G | ||
NM_000552.3:c.3539-242C>G | NP_000543.2:n.3539-242C>G | |
NM_000552.4:c.3539-242C>G | NP_000543.2:n.3539-242C>G | |
NM_000552.5:c.3539-242C>G MANE Select | NP_000543.3:n.3539-242C>G |