Linked Data
ClinVar Variation Id:
92331
ClinVar RCV Id:
RCV001521547
dbSNP Id:
rs140176911
ExAC:
1:115220523 C / T
gnomAD v2:
1-115220523-C-T
gnomAD v3:
1-114677902-C-T
gnomAD v4:
1-114677902-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677902C>T , CM000663.2:g.114677902C>T | GRCh38 |
| NC_000001.10:g.115220523C>T , CM000663.1:g.115220523C>T | GRCh37 |
| NC_000001.9:g.115022046C>T | NCBI36 |
| NG_008012.1:g.22654G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.1212+8G>A | ENSP00000358551.4:n.1212+8G>A | |
| ENST00000520113.7:c.1224+8G>A MANE Select | ENSP00000430075.3:n.1224+8G>A | |
| ENST00000637080.1:c.1007+8G>A | ENSP00000489753.1:n.1007+8G>A | |
| ENST00000639077.1:n.889+8G>A | ||
| ENST00000369538.3:c.1311+8G>A | ENSP00000358551.3:n.1311+8G>A | |
| ENST00000520113.6:c.1323+8G>A | ENSP00000430075.2:n.1323+8G>A | |
| NM_000036.2:c.1323+8G>A | NP_000027.2:n.1323+8G>A | |
| NM_001172626.1:c.1311+8G>A | NP_001166097.1:n.1311+8G>A | |
| NM_000036.3:c.1224+8G>A MANE Select | NP_000027.3:n.1224+8G>A | |
| NM_001172626.2:c.1212+8G>A | NP_001166097.2:n.1212+8G>A |