HGVS | Genome Assembly |
---|---|
NC_000002.12:g.71124235C= , CM000664.2:g.71124235C= | GRCh38 |
NC_000002.11:g.71351365C= , CM000664.1:g.71351365C= | GRCh37 |
NC_000002.10:g.71204873C= | NCBI36 |
NG_008977.1:g.11030G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000244217.6:c.349G= MANE Select | ENSP00000244217.5:p.Ala117= | |
ENST00000244217.5:c.349G= | ENSP00000244217.5:p.Ala117= | |
ENST00000413592.5:c.84+133G= | ENSP00000391140.1:n.84+133G= | |
ENST00000486135.1:c.64G= | ENSP00000441569.1:p.Ala22= | |
ENST00000494660.6:c.64G= | ENSP00000437361.1:p.Ala22= | |
NM_032601.3:c.349G= | NP_115990.3:p.Ala117= | |
XM_005264613.2:c.216+133G= | XP_005264670.1:n.216+133G= | |
XR_939729.1:n.418G= | ||
XR_939729.2:n.418G= | ||
NM_032601.4:c.349G= MANE Select | NP_115990.3:p.Ala117= |