Linked Data
ClinVar Variation Id:
343038
ClinVar RCV Id:
RCV000331257
dbSNP Id:
rs886057898
gnomAD v2:
3-124467793-A-G
gnomAD v3:
3-124748946-A-G
gnomAD v4:
3-124748946-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124748946A>G , CM000665.2:g.124748946A>G | GRCh38 |
| NC_000003.11:g.124467793A>G , CM000665.1:g.124467793A>G | GRCh37 |
| NC_000003.10:g.125950483A>G | NCBI36 |
| NG_017037.1:g.23581A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232607.7:c.*4862A>G MANE Select | ENSP00000232607.2:n.*4862A>G | |
| ENST00000232607.6:c.*4862A>G | ENSP00000232607.2:n.*4862A>G | |
| NM_000373.3:c.*4862A>G | NP_000364.1:n.*4862A>G | |
| NR_033434.1:n.6257A>G | ||
| NR_033437.1:n.6510A>G | ||
| XR_001740253.2:n.6539A>G | ||
| NM_000373.4:c.*4862A>G MANE Select | NP_000364.1:n.*4862A>G | |
| NR_033434.2:n.6171A>G | ||
| NR_033437.2:n.6424A>G |