HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2583356T>C , CM000673.2:g.2583356T>C | GRCh38 |
NC_000011.9:g.2604586T>C , CM000673.1:g.2604586T>C | GRCh37 |
NC_000011.8:g.2561162T>C | NCBI36 |
NG_008935.1:g.143366T>C , LRG_287:g.143366T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496887.7:c.661-79T>C | ENSP00000434560.2:n.661-79T>C | |
ENST00000646564.2:c.478-79T>C | ENSP00000495806.2:n.478-79T>C | |
ENST00000155840.12:c.922-79T>C MANE Select | ENSP00000155840.2:n.922-79T>C | |
ENST00000335475.6:c.541-79T>C | ENSP00000334497.5:n.541-79T>C | |
ENST00000646564.1:c.124-79T>C | ENSP00000495806.1:n.124-79T>C | |
ENST00000155840.9:c.922-79T>C | ENSP00000155840.2:n.922-79T>C | |
ENST00000335475.5:c.541-79T>C | ENSP00000334497.5:n.541-79T>C | |
NM_000218.2:c.922-79T>C , LRG_287t1:c.922-79T>C | NP_000209.2:n.922-79T>C | |
NM_181798.1:c.541-79T>C , LRG_287t2:c.541-79T>C | NP_861463.1:n.541-79T>C | |
NM_000218.3:c.922-79T>C MANE Select | NP_000209.2:n.922-79T>C |