Linked Data
dbSNP Id:
rs1030726669
gnomAD v2:
8-19815123-C-G
gnomAD v3:
8-19957612-C-G
gnomAD v4:
8-19957612-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19957612C>G , CM000670.2:g.19957612C>G | GRCh38 |
| NC_000008.10:g.19815123C>G , CM000670.1:g.19815123C>G | GRCh37 |
| NC_000008.9:g.19859403C>G | NCBI36 |
| NG_008855.1:g.23542C>G | |
| NG_008855.2:g.60896C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1018+1529C>G MANE Select | ENSP00000497642.1:n.1018+1529C>G | |
| ENST00000650478.1:c.79+1529C>G | ENSP00000497560.1:n.79+1529C>G | |
| ENST00000311322.8:c.1018+1529C>G | ENSP00000309757.6:n.1018+1529C>G | |
| NM_000237.2:c.1018+1529C>G | NP_000228.1:n.1018+1529C>G | |
| NM_000237.3:c.1018+1529C>G MANE Select | NP_000228.1:n.1018+1529C>G |