HGVS | Genome Assembly |
---|---|
NC_000020.11:g.48763113T>C , CM000682.2:g.48763113T>C | GRCh38 |
NC_000020.10:g.47379650T>C , CM000682.1:g.47379650T>C | GRCh37 |
NC_000020.9:g.46813057T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371941.4:c.220-15233A>G MANE Select | ENSP00000361009.3:n.220-15233A>G | |
ENST00000371941.3:c.220-15233A>G | ENSP00000361009.3:n.220-15233A>G | |
NM_020820.3:c.220-15233A>G | NP_065871.2:n.220-15233A>G | |
NM_020820.4:c.220-15233A>G MANE Select | NP_065871.3:n.220-15233A>G |