HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186208845T>C , CM000666.2:g.186208845T>C | GRCh38 |
NC_000004.11:g.187129999T>C , CM000666.1:g.187129999T>C | GRCh37 |
NC_000004.10:g.187366993T>C | NCBI36 |
NG_007965.1:g.22326T>C | |
NG_012095.2:g.4867T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378802.5:c.1091-20T>C MANE Select | ENSP00000368079.4:n.1091-20T>C | |
ENST00000378802.4:c.1091-20T>C | ENSP00000368079.4:n.1091-20T>C | |
ENST00000502665.1:n.326-20T>C | ||
ENST00000507209.5:n.5789-20T>C | ||
ENST00000513354.5:n.181-20T>C | ||
NM_207352.3:c.1091-20T>C | NP_997235.3:n.1091-20T>C | |
XM_005262935.2:c.1091-20T>C | XP_005262992.1:n.1091-20T>C | |
XM_006714184.2:c.695-20T>C | XP_006714247.1:n.695-20T>C | |
XM_005262935.4:c.1091-20T>C | XP_005262992.1:n.1091-20T>C | |
XM_017008037.1:c.695-20T>C | XP_016863526.1:n.695-20T>C | |
NM_207352.4:c.1091-20T>C MANE Select | NP_997235.3:n.1091-20T>C |