Linked Data
ClinVar Variation Id:
46741
ClinVar RCV Id:
RCV000040011
RCV000082378
RCV001085022
RCV001170867
RCV001132271
RCV001132267
RCV001132268
RCV001132269
RCV001132270
RCV001787037
RCV004534874
dbSNP Id:
rs72648981
ExAC:
2:179582913 C / T
gnomAD v2:
2-179582913-C-T
gnomAD v3:
2-178718186-C-T
gnomAD v4:
2-178718186-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178718186C>T , CM000664.2:g.178718186C>T | GRCh38 |
| NC_000002.11:g.179582913C>T , CM000664.1:g.179582913C>T | GRCh37 |
| NC_000002.10:g.179291158C>T | NCBI36 |
| NG_011618.3:g.117617G>A , LRG_391:g.117617G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.21088G>A | ENSP00000343764.6:p.Glu7030Lys | |
| ENST00000342175.11:c.13858+19896G>A | ENSP00000340554.6:n.13858+19896G>A | |
| ENST00000359218.10:c.13657+19896G>A | ENSP00000352154.5:n.13657+19896G>A | |
| ENST00000342175.10:c.13858+19896G>A | ENSP00000340554.6:n.13858+19896G>A | |
| ENST00000342992.10:c.21088G>A | ENSP00000343764.6:p.Glu7030Lys | |
| ENST00000359218.9:c.13657+19896G>A | ENSP00000352154.5:n.13657+19896G>A | |
| ENST00000460472.6:c.13282+19896G>A | ENSP00000434586.1:n.13282+19896G>A | |
| ENST00000589042.5:c.24820G>A MANE Select | ENSP00000467141.1:p.Glu8274Lys | |
| ENST00000591111.5:c.23869G>A | ENSP00000465570.1:p.Glu7957Lys | |
| ENST00000615779.4:c.23869G>A | ENSP00000483597.1:p.Glu7957Lys | |
| NM_001256850.1:c.23869G>A | NP_001243779.1:p.Glu7957Lys | |
| NM_001267550.2:c.24820G>A MANE Select | NP_001254479.2:p.Glu8274Lys | |
| NM_003319.4:c.13282+19896G>A | NP_003310.4:n.13282+19896G>A | |
| NM_133378.4:c.21088G>A | NP_596869.4:p.Glu7030Lys | |
| NM_133432.3:c.13657+19896G>A | NP_597676.3:n.13657+19896G>A | |
| NM_133437.4:c.13858+19896G>A | NP_597681.4:n.13858+19896G>A | |
| XM_011511729.1:c.23917G>A | XP_011510031.1:p.Glu7973Lys | |
| XM_011511730.1:c.13468+19896G>A | XP_011510032.1:n.13468+19896G>A | |
| XM_011511731.1:c.13327+19896G>A | XP_011510033.1:n.13327+19896G>A | |
| XM_017004819.1:c.23872G>A | XP_016860308.1:p.Glu7958Lys | |
| XM_017004820.1:c.21091G>A | XP_016860309.1:p.Glu7031Lys | |
| XM_017004821.1:c.21088G>A | XP_016860310.1:p.Glu7030Lys | |
| XM_017004822.1:c.23872G>A | XP_016860311.1:p.Glu7958Lys | |
| XM_017004823.1:c.13423+19896G>A | XP_016860312.1:n.13423+19896G>A | |
| XM_024453094.1:c.23872G>A | XP_024308862.1:p.Glu7958Lys | |
| XM_024453095.1:c.23872G>A | XP_024308863.1:p.Glu7958Lys | |
| XM_024453096.1:c.23872G>A | XP_024308864.1:p.Glu7958Lys | |
| XM_024453097.1:c.23872G>A | XP_024308865.1:p.Glu7958Lys | |
| XM_024453098.1:c.23872G>A | XP_024308866.1:p.Glu7958Lys | |
| XM_024453099.1:c.13423+19896G>A | XP_024308867.1:n.13423+19896G>A |