Linked Data
ClinVar Variation Id:
3184329
ClinVar RCV Id:
RCV004479215
dbSNP Id:
rs769483674
ExAC:
1:2575902 G / C
gnomAD v2:
1-2575902-G-C
gnomAD v3:
1-2644463-G-C
gnomAD v4:
1-2644463-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2644463G>C , CM000663.2:g.2644463G>C | GRCh38 |
| NC_000001.10:g.2575902G>C , CM000663.1:g.2575902G>C | GRCh37 |
| NC_000001.9:g.2565762G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401095.9:c.2513C>G MANE Select | ENSP00000383873.4:p.Ala838Gly | |
| ENST00000401095.8:c.2513C>G | ENSP00000383873.4:p.Ala838Gly | |
| ENST00000637179.1:c.974C>G | ENSP00000490537.1:p.Ala325Gly | |
| ENST00000401095.7:c.974C>G | ENSP00000383873.3:p.Ala325Gly | |
| NM_001242672.1:c.974C>G | NP_001229601.1:p.Ala325Gly | |
| XM_011540457.1:c.974C>G | XP_011538759.1:p.Ala325Gly | |
| NM_001242672.2:c.2513C>G | NP_001229601.2:p.Ala838Gly | |
| XM_016999990.1:c.974C>G | XP_016855479.1:p.Ala325Gly | |
| NM_001242672.3:c.2513C>G MANE Select | NP_001229601.2:p.Ala838Gly |