Linked Data
ClinVar Variation Id:
736442
dbSNP Id:
rs777211540
ExAC:
1:68896957 T / C
gnomAD v2:
1-68896957-T-C
gnomAD v3:
1-68431274-T-C
gnomAD v4:
1-68431274-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431274T>C , CM000663.2:g.68431274T>C | GRCh38 |
| NC_000001.10:g.68896957T>C , CM000663.1:g.68896957T>C | GRCh37 |
| NC_000001.9:g.68669545T>C | NCBI36 |
| NG_008472.1:g.23686A>G | |
| NG_008472.2:g.23686A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1338+8A>G MANE Select | ENSP00000262340.5:n.1338+8A>G | |
| ENST00000262340.5:c.1338+8A>G | ENSP00000262340.5:n.1338+8A>G | |
| NM_000329.2:c.1338+8A>G | NP_000320.1:n.1338+8A>G | |
| XM_017002027.1:c.1062+8A>G | XP_016857516.1:n.1062+8A>G | |
| NM_000329.3:c.1338+8A>G MANE Select | NP_000320.1:n.1338+8A>G |