HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21138535T>C , CM000674.2:g.21138535T>C | GRCh38 |
NC_000012.11:g.21291469T>C , CM000674.1:g.21291469T>C | GRCh37 |
NC_000012.10:g.21182736T>C | NCBI36 |
NG_011745.1:g.12342T>C , LRG_1022:g.12342T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256958.3:c.-61-2979T>C MANE Select | ENSP00000256958.2:n.-61-2979T>C | |
ENST00000256958.2:c.-61-2979T>C | ENSP00000256958.2:n.-61-2979T>C | |
ENST00000543498.5:c.281-2979T>C | ||
ENST00000585342.5:c.485-2979T>C | ENSP00000467594.1:n.485-2979T>C | |
ENST00000590779.5:c.491-2979T>C | ||
ENST00000592513.1:c.472-2979T>C | ||
NM_006446.4:c.-61-2979T>C , LRG_1022t1:c.-61-2979T>C | NP_006437.3:n.-61-2979T>C | |
NM_006446.5:c.-61-2979T>C MANE Select | NP_006437.3:n.-61-2979T>C |