Linked Data
ClinVar Variation Id:
1220995
ClinVar RCV Id:
RCV001595557
dbSNP Id:
rs11574085
gnomAD v2:
12-48250794-T-A
gnomAD v3:
12-47857011-T-A
gnomAD v4:
12-47857011-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47857011T>A , CM000674.2:g.47857011T>A | GRCh38 |
| NC_000012.11:g.48250794T>A , CM000674.1:g.48250794T>A | GRCh37 |
| NC_000012.10:g.46537061T>A | NCBI36 |
| NG_008731.1:g.53021A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229022.9:c.583+118A>T | ENSP00000229022.5:n.583+118A>T | |
| ENST00000549336.6:c.583+118A>T MANE Select | ENSP00000449573.2:n.583+118A>T | |
| ENST00000229022.7:c.583+118A>T | ENSP00000229022.3:n.583+118A>T | |
| ENST00000395324.6:c.583+118A>T | ENSP00000378734.2:n.583+118A>T | |
| ENST00000546653.5:c.583+118A>T | ENSP00000448659.1:n.583+118A>T | |
| ENST00000547065.1:c.*585+118A>T | ENSP00000449074.1:n.*585+118A>T | |
| ENST00000549336.5:c.583+118A>T | ENSP00000449573.1:n.583+118A>T | |
| ENST00000550325.5:c.733+118A>T | ENSP00000447173.1:n.733+118A>T | |
| NM_000376.2:c.583+118A>T | NP_000367.1:n.583+118A>T | |
| NM_001017535.1:c.583+118A>T | NP_001017535.1:n.583+118A>T | |
| NM_001017536.1:c.733+118A>T | NP_001017536.1:n.733+118A>T | |
| XM_006719587.2:c.583+118A>T | XP_006719650.1:n.583+118A>T | |
| XM_011538720.1:c.583+118A>T | XP_011537022.1:n.583+118A>T | |
| NM_001364085.1:c.583+118A>T | NP_001351014.1:n.583+118A>T | |
| XM_006719587.3:c.583+118A>T | XP_006719650.1:n.583+118A>T | |
| XM_011538720.2:c.583+118A>T | XP_011537022.1:n.583+118A>T | |
| XM_024449178.1:c.652+118A>T | XP_024304946.1:n.652+118A>T | |
| NM_000376.3:c.583+118A>T MANE Select | NP_000367.1:n.583+118A>T | |
| NM_001017535.2:c.583+118A>T | NP_001017535.1:n.583+118A>T | |
| NM_001017536.2:c.733+118A>T | NP_001017536.1:n.733+118A>T | |
| NM_001364085.2:c.583+118A>T | NP_001351014.1:n.583+118A>T | |
| NM_001374661.1:c.583+118A>T | NP_001361590.1:n.583+118A>T | |
| NM_001374662.1:c.583+118A>T | NP_001361591.1:n.583+118A>T |