Linked Data
ClinVar Variation Id:
1533323
ClinVar RCV Id:
RCV002102316
dbSNP Id:
rs375559067
gnomAD v2:
9-130587652-C-G
gnomAD v3:
9-127825373-C-G
gnomAD v4:
9-127825373-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127825373C>G , CM000671.2:g.127825373C>G | GRCh38 |
| NC_000009.11:g.130587652C>G , CM000671.1:g.130587652C>G | GRCh37 |
| NC_000009.10:g.129627473C>G | NCBI36 |
| NG_009551.1:g.34396G>C , LRG_589:g.34396G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.144-16G>C | ENSP00000479015.1:n.144-16G>C | |
| ENST00000373203.9:c.690-16G>C MANE Select | ENSP00000362299.4:n.690-16G>C | |
| ENST00000344849.4:c.690-16G>C | ENSP00000341917.3:n.690-16G>C | |
| ENST00000373203.8:c.690-16G>C | ENSP00000362299.4:n.690-16G>C | |
| ENST00000480266.5:c.144-16G>C | ENSP00000479015.1:n.144-16G>C | |
| NM_000118.3:c.690-16G>C , LRG_589t1:c.690-16G>C | NP_000109.1:n.690-16G>C | |
| NM_001114753.2:c.690-16G>C , LRG_589t2:c.690-16G>C | NP_001108225.1:n.690-16G>C | |
| NM_001278138.1:c.144-16G>C | NP_001265067.1:n.144-16G>C | |
| NM_001114753.3:c.690-16G>C MANE Select | NP_001108225.1:n.690-16G>C | |
| NM_001278138.2:c.144-16G>C | NP_001265067.1:n.144-16G>C |