HGVS | Genome Assembly |
---|---|
NC_000013.11:g.73064601T>C , CM000675.2:g.73064601T>C | GRCh38 |
NC_000013.10:g.73638739T>C , CM000675.1:g.73638739T>C | GRCh37 |
NC_000013.9:g.72536740T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000377687.6:c.1195+718T>C MANE Select | ENSP00000366915.4:n.1195+718T>C | |
ENST00000377687.5:c.1195+718T>C | ENSP00000366915.4:n.1195+718T>C | |
ENST00000539231.5:c.922+718T>C | ENSP00000440407.1:n.922+718T>C | |
NM_001286818.1:c.922+718T>C | NP_001273747.1:n.922+718T>C | |
NM_001730.4:c.1195+718T>C | NP_001721.2:n.1195+718T>C | |
NM_001730.5:c.1195+718T>C MANE Select | NP_001721.2:n.1195+718T>C | |
NM_001286818.2:c.922+718T>C | NP_001273747.1:n.922+718T>C |