Linked Data
ClinVar Variation Id:
310135
dbSNP Id:
rs376456435
ExAC:
12:6457974 G / A
gnomAD v2:
12-6457974-G-A
gnomAD v3:
12-6348808-G-A
gnomAD v4:
12-6348808-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6348808G>A , CM000674.2:g.6348808G>A | GRCh38 |
| NC_000012.11:g.6457974G>A , CM000674.1:g.6457974G>A | GRCh37 |
| NC_000012.10:g.6328235G>A | NCBI36 |
| NG_011945.1:g.33550C>T | |
| NG_011945.2:g.33550C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228916.7:c.1554-6C>T MANE Select | ENSP00000228916.2:n.1554-6C>T | |
| ENST00000228916.6:c.1554-6C>T | ENSP00000228916.2:n.1554-6C>T | |
| ENST00000338748.9:c.*625-6C>T | ENSP00000345028.5:n.*625-6C>T | |
| ENST00000360168.7:c.1731-6C>T | ENSP00000353292.3:n.1731-6C>T | |
| ENST00000396966.6:c.1496-6C>T | ENSP00000380166.2:n.1496-6C>T | |
| ENST00000539953.1:n.155-6C>T | ||
| ENST00000540037.5:c.654-6C>T | ENSP00000440876.1:n.654-6C>T | |
| ENST00000543768.1:c.1623-6C>T | ENSP00000438739.1:n.1623-6C>T | |
| NM_001038.5:c.1554-6C>T | NP_001029.1:n.1554-6C>T | |
| NM_001159575.1:c.1623-6C>T | NP_001153047.1:n.1623-6C>T | |
| NM_001159576.1:c.1731-6C>T | NP_001153048.1:n.1731-6C>T | |
| XR_001748982.1:n.87+541G>A | ||
| XR_001748983.1:n.87+541G>A | ||
| XR_001748984.1:n.87+541G>A | ||
| NM_001038.6:c.1554-6C>T MANE Select | NP_001029.1:n.1554-6C>T | |
| NM_001159576.2:c.1731-6C>T | NP_001153048.1:n.1731-6C>T | |
| NM_001159575.2:c.1623-6C>T | NP_001153047.1:n.1623-6C>T |