HGVS | Genome Assembly |
---|---|
NC_000020.11:g.61531897T>C , CM000682.2:g.61531897T>C | GRCh38 |
NC_000020.10:g.60106953T>C , CM000682.1:g.60106953T>C | GRCh37 |
NC_000020.9:g.59540348T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614565.5:c.170-211666T>C MANE Select | ENSP00000484928.1:n.170-211666T>C | |
ENST00000614565.4:c.170-211666T>C | ENSP00000484928.1:n.170-211666T>C | |
NM_001252338.2:c.58+32405T>C | NP_001239267.1:n.58+32405T>C | |
NM_001794.4:c.170-211666T>C | NP_001785.2:n.170-211666T>C | |
NM_001794.5:c.170-211666T>C MANE Select | NP_001785.2:n.170-211666T>C |