Linked Data
ClinVar Variation Id:
1266011
ClinVar RCV Id:
RCV001675307
dbSNP Id:
rs4986938
ExAC:
14:64699816 C / T
gnomAD v2:
14-64699816-C-T
gnomAD v3:
14-64233098-C-T
gnomAD v4:
14-64233098-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64233098C>T , CM000676.2:g.64233098C>T | GRCh38 |
| NC_000014.8:g.64699816C>T , CM000676.1:g.64699816C>T | GRCh37 |
| NC_000014.7:g.63769569C>T | NCBI36 |
| NG_011535.1:g.110453G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341099.6:c.*39G>A MANE Select | ENSP00000343925.4:n.*39G>A | |
| ENST00000267525.10:c.*39G>A | ENSP00000267525.6:n.*39G>A | |
| ENST00000341099.5:c.*39G>A | ENSP00000343925.4:n.*39G>A | |
| ENST00000344288.10:c.*295+1872G>A | ENSP00000345616.6:n.*295+1872G>A | |
| ENST00000353772.7:c.1406+1872G>A | ENSP00000335551.4:n.1406+1872G>A | |
| ENST00000358599.9:c.1406+1872G>A | ENSP00000351412.5:n.1406+1872G>A | |
| ENST00000553796.5:c.1406+1872G>A | ENSP00000452426.1:n.1406+1872G>A | |
| ENST00000554520.1:n.1187G>A | ||
| ENST00000554572.5:c.1406+1872G>A | ENSP00000450699.1:n.1406+1872G>A | |
| ENST00000555278.5:c.1406+1872G>A | ENSP00000450488.1:n.1406+1872G>A | |
| ENST00000555483.5:n.1367G>A | ||
| ENST00000556275.5:c.1406+1872G>A | ENSP00000452485.2:n.1406+1872G>A | |
| ENST00000557772.5:c.3278G>A | ENSP00000451582.1:n.3278G>A | |
| NM_001040275.1:c.1406+1872G>A | NP_001035365.1:n.1406+1872G>A | |
| NM_001214902.1:c.1406+1872G>A | NP_001201831.1:n.1406+1872G>A | |
| NM_001271876.1:c.1406+1872G>A | NP_001258805.1:n.1406+1872G>A | |
| NM_001271877.1:c.*39G>A | NP_001258806.1:n.*39G>A | |
| NM_001291712.1:c.1406+1872G>A | NP_001278641.1:n.1406+1872G>A | |
| NM_001291723.1:c.1406+1872G>A | NP_001278652.1:n.1406+1872G>A | |
| NM_001437.2:c.*39G>A | NP_001428.1:n.*39G>A | |
| NR_073496.1:n.2010+1872G>A | ||
| NR_073497.1:n.1600G>A | ||
| XM_011536545.1:c.1406+1872G>A | XP_011534847.1:n.1406+1872G>A | |
| XM_011536546.1:c.*39G>A | XP_011534848.1:n.*39G>A | |
| XM_017021079.1:c.*39G>A | XP_016876568.1:n.*39G>A | |
| XM_017021080.1:c.*39G>A | XP_016876569.1:n.*39G>A | |
| XM_017021081.1:c.*39G>A | XP_016876570.1:n.*39G>A | |
| XM_017021082.1:c.*39G>A | XP_016876571.1:n.*39G>A | |
| XM_017021083.1:c.*39G>A | XP_016876572.1:n.*39G>A | |
| XM_017021084.1:c.1406+1872G>A | XP_016876573.1:n.1406+1872G>A | |
| XR_001750187.1:n.1842+1872G>A | ||
| NM_001291712.2:c.1406+1872G>A | NP_001278641.1:n.1406+1872G>A | |
| NR_073496.2:n.2073+1872G>A | ||
| NM_001437.3:c.*39G>A MANE Select | NP_001428.1:n.*39G>A |