Linked Data
ClinVar Variation Id:
1222763
ClinVar RCV Id:
RCV001598393
dbSNP Id:
rs650439
ExAC:
13:33635939 T / A
gnomAD v2:
13-33635939-T-A
gnomAD v3:
13-33061802-T-A
gnomAD v4:
13-33061802-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33061802T>A , CM000675.2:g.33061802T>A | GRCh38 |
| NC_000013.10:g.33635939T>A , CM000675.1:g.33635939T>A | GRCh37 |
| NC_000013.9:g.32533939T>A | NCBI36 |
| NG_011485.1:g.50369T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380099.4:c.2701+22T>A MANE Select | ENSP00000369442.3:n.2701+22T>A | |
| ENST00000380099.3:c.2701+22T>A | ENSP00000369442.3:n.2701+22T>A | |
| ENST00000487852.1:n.2759+22T>A | ||
| NM_004795.3:c.2701+22T>A | NP_004786.2:n.2701+22T>A | |
| XM_006719895.1:c.1780+22T>A | XP_006719958.1:n.1780+22T>A | |
| XM_006719895.2:c.1780+22T>A | XP_006719958.1:n.1780+22T>A | |
| NM_004795.4:c.2701+22T>A MANE Select | NP_004786.2:n.2701+22T>A |