Linked Data
ClinVar Variation Id:
310156
dbSNP Id:
rs61758858
ExAC:
12:6484017 G / A
gnomAD v2:
12-6484017-G-A
gnomAD v3:
12-6374851-G-A
gnomAD v4:
12-6374851-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6374851G>A , CM000674.2:g.6374851G>A | GRCh38 |
| NC_000012.11:g.6484017G>A , CM000674.1:g.6484017G>A | GRCh37 |
| NC_000012.10:g.6354278G>A | NCBI36 |
| NG_011945.1:g.7507C>T | |
| NG_033039.1:g.4484G>A | |
| NG_011945.2:g.7507C>T | |
| NG_033039.2:g.4484G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228916.7:c.-54-14C>T MANE Select | ENSP00000228916.2:n.-54-14C>T | |
| ENST00000228916.6:c.-54-14C>T | ENSP00000228916.2:n.-54-14C>T | |
| ENST00000360168.7:c.110C>T | ENSP00000353292.3:p.Pro37Leu | |
| ENST00000536176.1:n.28-14C>T | ||
| ENST00000536411.1:n.525-14C>T | ||
| ENST00000536788.1:c.10-14C>T | ENSP00000443434.1:n.10-14C>T | |
| ENST00000538957.1:n.219-14C>T | ||
| ENST00000538979.5:n.82+502C>T | ||
| ENST00000542260.1:n.212-14C>T | ||
| ENST00000542436.1:n.187-14C>T | ||
| ENST00000543585.1:n.192-123C>T | ||
| ENST00000543768.1:c.16-14C>T | ENSP00000438739.1:n.16-14C>T | |
| ENST00000544882.1:n.60-123C>T | ||
| ENST00000545605.1:n.364-14C>T | ||
| NM_001038.5:c.-54-14C>T | NP_001029.1:n.-54-14C>T | |
| NM_001159575.1:c.16-14C>T | NP_001153047.1:n.16-14C>T | |
| NM_001159576.1:c.110C>T | NP_001153048.1:p.Pro37Leu | |
| NM_001038.6:c.-54-14C>T MANE Select | NP_001029.1:n.-54-14C>T | |
| NM_001159576.2:c.110C>T | NP_001153048.1:p.Pro37Leu | |
| NM_001159575.2:c.16-14C>T | NP_001153047.1:n.16-14C>T |