Linked Data
ClinVar Variation Id:
262578
dbSNP Id:
rs150268069
ExAC:
12:57637854 T / A
gnomAD v2:
12-57637854-T-A
gnomAD v3:
12-57244071-T-A
gnomAD v4:
12-57244071-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57244071T>A , CM000674.2:g.57244071T>A | GRCh38 |
| NC_000012.11:g.57637854T>A , CM000674.1:g.57637854T>A | GRCh37 |
| NC_000012.10:g.55924121T>A | NCBI36 |
| NG_033835.1:g.12123A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332782.7:c.996+17A>T MANE Select | ENSP00000329200.2:n.996+17A>T | |
| ENST00000332782.6:c.996+17A>T | ENSP00000329200.2:n.996+17A>T | |
| ENST00000546246.2:c.438+17A>T | ENSP00000441515.2:n.438+17A>T | |
| ENST00000554578.5:c.879+17A>T | ENSP00000452068.1:n.879+17A>T | |
| ENST00000557176.5:c.*56+17A>T | ENSP00000450740.1:n.*56+17A>T | |
| NM_001286256.1:c.879+17A>T | NP_001273185.1:n.879+17A>T | |
| NM_001286257.1:c.438+17A>T | NP_001273186.1:n.438+17A>T | |
| NM_145064.2:c.996+17A>T | NP_659501.1:n.996+17A>T | |
| NR_104422.1:n.698+17A>T | ||
| XM_011538126.1:c.996+17A>T | XP_011536428.1:n.996+17A>T | |
| XR_944515.1:n.1125+17A>T | ||
| XM_011538126.2:c.996+17A>T | XP_011536428.1:n.996+17A>T | |
| XR_002957305.1:n.1295+17A>T | ||
| XR_944515.2:n.1125+17A>T | ||
| NM_145064.3:c.996+17A>T MANE Select | NP_659501.1:n.996+17A>T | |
| NM_001286256.2:c.879+17A>T | NP_001273185.1:n.879+17A>T | |
| NM_001286257.2:c.438+17A>T | NP_001273186.1:n.438+17A>T | |
| NR_104422.2:n.692+17A>T |