Linked Data
ClinVar Variation Id:
1273293
ClinVar RCV Id:
RCV001679116
dbSNP Id:
rs5030772
gnomAD v2:
1-172633350-A-G
gnomAD v3:
1-172664210-A-G
gnomAD v4:
1-172664210-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172664210A>G , CM000663.2:g.172664210A>G | GRCh38 |
| NC_000001.10:g.172633350A>G , CM000663.1:g.172633350A>G | GRCh37 |
| NC_000001.9:g.170899973A>G | NCBI36 |
| NG_007269.1:g.10166A>G , LRG_58:g.10166A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367721.3:c.395-124A>G MANE Select | ENSP00000356694.2:n.395-124A>G | |
| ENST00000340030.4:c.349-124A>G | ENSP00000344739.3:n.349-124A>G | |
| ENST00000367721.2:c.395-124A>G | ENSP00000356694.2:n.395-124A>G | |
| NM_000639.2:c.395-124A>G | NP_000630.1:n.395-124A>G | |
| NM_001302746.1:c.349-124A>G | NP_001289675.1:n.349-124A>G | |
| NM_000639.3:c.395-124A>G MANE Select | NP_000630.1:n.395-124A>G | |
| NM_001302746.2:c.349-124A>G | NP_001289675.1:n.349-124A>G |