Linked Data
ClinVar Variation Id:
92843
dbSNP Id:
rs3092904
ExAC:
13:49051481 T / A
gnomAD v2:
13-49051481-T-A
gnomAD v3:
13-48477345-T-A
gnomAD v4:
13-48477345-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48477345T>A , CM000675.2:g.48477345T>A | GRCh38 |
| NC_000013.10:g.49051481T>A , CM000675.1:g.49051481T>A | GRCh37 |
| NC_000013.9:g.47949482T>A | NCBI36 |
| NG_009009.1:g.178599T>A , LRG_517:g.178599T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267163.6:c.2664-10T>A MANE Select | ENSP00000267163.4:n.2664-10T>A | |
| ENST00000643064.1:c.194+95902T>A | ||
| ENST00000650461.1:c.2664-10T>A | ENSP00000497193.1:n.2664-10T>A | |
| ENST00000267163.4:c.2664-10T>A | ENSP00000267163.4:n.2664-10T>A | |
| ENST00000484879.1:n.398-10T>A | ||
| ENST00000531171.5:n.267-10T>A | ||
| NM_000321.2:c.2664-10T>A , LRG_517t1:c.2664-10T>A | NP_000312.2:n.2664-10T>A | |
| XM_011535171.1:c.2403-10T>A | XP_011533473.1:n.2403-10T>A | |
| XM_011535171.2:c.2403-10T>A | XP_011533473.1:n.2403-10T>A | |
| NM_000321.3:c.2664-10T>A MANE Select | NP_000312.2:n.2664-10T>A |