HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186205258C= , CM000666.2:g.186205258C= | GRCh38 |
NC_000004.11:g.187126412C= , CM000666.1:g.187126412C= | GRCh37 |
NC_000004.10:g.187363406C= | NCBI36 |
NG_007965.1:g.18739C= | |
NG_012095.2:g.1280C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378802.5:c.1046C= MANE Select | ENSP00000368079.4:p.Pro349= | |
ENST00000378802.4:c.1046C= | ENSP00000368079.4:p.Pro349= | |
ENST00000502665.1:n.281C= | ||
ENST00000507209.5:n.5744C= | ||
ENST00000513354.5:n.136C= | ||
NM_207352.3:c.1046C= | NP_997235.3:p.Pro349= | |
XM_005262935.2:c.1046C= | XP_005262992.1:p.Pro349= | |
XM_006714184.2:c.650C= | XP_006714247.1:p.Pro217= | |
XM_005262935.4:c.1046C= | XP_005262992.1:p.Pro349= | |
XM_017008037.1:c.650C= | XP_016863526.1:p.Pro217= | |
NM_207352.4:c.1046C= MANE Select | NP_997235.3:p.Pro349= |