Linked Data
ClinVar Variation Id:
204166
ClinVar RCV Id:
RCV000186373
dbSNP Id:
rs180177245
gnomAD v3:
2-240873976-A-G
gnomAD v4:
2-240873976-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873976A>G , CM000664.2:g.240873976A>G | GRCh38 |
| NC_000002.11:g.241813393A>G , CM000664.1:g.241813393A>G | GRCh37 |
| NC_000002.10:g.241462066A>G | NCBI36 |
| NG_008005.1:g.10232A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.596-2A>G MANE Select | ENSP00000302620.3:n.596-2A>G | |
| ENST00000307503.3:c.596-2A>G | ENSP00000302620.3:n.596-2A>G | |
| ENST00000476698.1:n.332+927A>G | ||
| NM_000030.2:c.596-2A>G | NP_000021.1:n.596-2A>G | |
| NM_000030.3:c.596-2A>G MANE Select | NP_000021.1:n.596-2A>G |