Linked Data
ClinVar Variation Id:
1602135
ClinVar RCV Id:
RCV002129876
dbSNP Id:
rs1285494956
gnomAD v2:
12-33031863-G-A
gnomAD v4:
12-32878929-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32878929G>A , CM000674.2:g.32878929G>A | GRCh38 |
| NC_000012.11:g.33031863G>A , CM000674.1:g.33031863G>A | GRCh37 |
| NC_000012.10:g.32923130G>A | NCBI36 |
| NG_009000.1:g.22918C>T , LRG_398:g.22918C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700559.2:c.327C>T | ENSP00000515065.2:p.Asp109= | |
| ENST00000700563.2:c.327C>T | ENSP00000515066.2:p.Asp109= | |
| ENST00000700563.1:c.281C>T | ||
| ENST00000700564.1:n.331C>T | ||
| ENST00000700565.1:n.180C>T | ||
| ENST00000070846.11:c.327C>T | ENSP00000070846.6:p.Asp109= | |
| ENST00000340811.9:c.327C>T MANE Select | ENSP00000342800.5:p.Asp109= | |
| ENST00000070846.10:c.327C>T | ENSP00000070846.6:p.Asp109= | |
| ENST00000340811.8:c.327C>T | ENSP00000342800.4:p.Asp109= | |
| ENST00000613243.1:c.327C>T | ENSP00000478295.1:p.Asp109= | |
| NM_001005242.2:c.327C>T | NP_001005242.2:p.Asp109= | |
| NM_004572.3:c.327C>T , LRG_398t1:c.327C>T | NP_004563.2:p.Asp109= | |
| NM_001005242.3:c.327C>T MANE Select | NP_001005242.2:p.Asp109= | |
| NM_004572.4:c.327C>T | NP_004563.2:p.Asp109= |