Linked Data
ClinVar Variation Id:
314758
ClinVar RCV Id:
RCV000366170
dbSNP Id:
rs886050867
gnomAD v2:
14-88454498-C-T
gnomAD v3:
14-87988154-C-T
gnomAD v4:
14-87988154-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87988154C>T , CM000676.2:g.87988154C>T | GRCh38 |
| NC_000014.8:g.88454498C>T , CM000676.1:g.88454498C>T | GRCh37 |
| NC_000014.7:g.87524251C>T | NCBI36 |
| NG_011853.2:g.10410G>A | |
| NG_011853.3:g.10410G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.318G>A MANE Select | ENSP00000261304.2:p.Gly106= | |
| ENST00000261304.6:c.318G>A | ENSP00000261304.2:p.Gly106= | |
| ENST00000393568.8:c.249G>A | ENSP00000377198.4:p.Gly83= | |
| ENST00000393569.6:c.240G>A | ENSP00000377199.2:p.Gly80= | |
| ENST00000474294.6:n.308G>A | ||
| ENST00000544807.6:c.150G>A | ENSP00000437513.2:p.Gly50= | |
| ENST00000554372.5:c.318G>A | ENSP00000451884.1:p.Gly106= | |
| ENST00000554916.5:n.197G>A | ||
| ENST00000555956.1:n.123G>A | ||
| ENST00000556261.5:n.19G>A | ||
| ENST00000556879.5:c.378G>A | ENSP00000452208.1:n.378G>A | |
| ENST00000557316.5:c.318G>A | ENSP00000452314.1:p.Gly106= | |
| ENST00000622264.4:c.308G>A | ||
| NM_000153.3:c.318G>A | NP_000144.2:p.Gly106= | |
| NM_001201401.1:c.249G>A | NP_001188330.1:p.Gly83= | |
| NM_001201402.1:c.240G>A | NP_001188331.1:p.Gly80= | |
| XM_011536618.1:c.150G>A | XP_011534920.1:p.Gly50= | |
| XM_011536618.2:c.150G>A | XP_011534920.1:p.Gly50= | |
| NM_000153.4:c.318G>A MANE Select | NP_000144.2:p.Gly106= | |
| NM_001201401.2:c.249G>A | NP_001188330.1:p.Gly83= | |
| NM_001201402.2:c.240G>A | NP_001188331.1:p.Gly80= |