Linked Data
ClinVar Variation Id:
416500
dbSNP Id:
rs371150038
gnomAD v2:
13-49050830-T-A
gnomAD v3:
13-48476694-T-A
gnomAD v4:
13-48476694-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48476694T>A , CM000675.2:g.48476694T>A | GRCh38 |
| NC_000013.10:g.49050830T>A , CM000675.1:g.49050830T>A | GRCh37 |
| NC_000013.9:g.47948831T>A | NCBI36 |
| NG_009009.1:g.177948T>A , LRG_517:g.177948T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2521-7T>A MANE Select | ENSP00000267163.4:n.2521-7T>A | |
| ENST00000643064.1:c.194+95251T>A | ||
| ENST00000650461.1:c.2521-7T>A | ENSP00000497193.1:n.2521-7T>A | |
| ENST00000267163.4:c.2521-7T>A | ENSP00000267163.4:n.2521-7T>A | |
| ENST00000484879.1:n.248T>A | ||
| ENST00000531171.5:n.124-7T>A | ||
| NM_000321.2:c.2521-7T>A , LRG_517t1:c.2521-7T>A | NP_000312.2:n.2521-7T>A | |
| XM_011535171.1:c.2260-7T>A | XP_011533473.1:n.2260-7T>A | |
| XM_011535171.2:c.2260-7T>A | XP_011533473.1:n.2260-7T>A | |
| NM_000321.3:c.2521-7T>A MANE Select | NP_000312.2:n.2521-7T>A |