Linked Data
dbSNP Id:
rs656843
gnomAD v2:
1-111736672-T-C
gnomAD v3:
1-111194050-T-C
gnomAD v4:
1-111194050-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111194050T>C , CM000663.2:g.111194050T>C | GRCh38 |
| NC_000001.10:g.111736672T>C , CM000663.1:g.111736672T>C | GRCh37 |
| NC_000001.9:g.111538195T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357640.9:c.794+528A>G MANE Select | ENSP00000350266.4:n.794+528A>G | |
| ENST00000357640.8:c.794+528A>G | ENSP00000350266.4:n.794+528A>G | |
| ENST00000369752.5:c.785+528A>G | ENSP00000358767.5:n.785+528A>G | |
| NM_001271833.1:c.785+528A>G | NP_001258762.1:n.785+528A>G | |
| NM_024901.4:c.794+528A>G | NP_079177.2:n.794+528A>G | |
| XM_006710921.2:c.836+528A>G | XP_006710984.2:n.836+528A>G | |
| XM_006710922.1:c.626+528A>G | XP_006710985.1:n.626+528A>G | |
| XM_006710923.1:c.626+528A>G | XP_006710986.1:n.626+528A>G | |
| XM_006710924.1:c.626+528A>G | XP_006710987.1:n.626+528A>G | |
| XM_011542187.1:c.758+528A>G | XP_011540489.1:n.758+528A>G | |
| XM_011542188.1:c.758+528A>G | XP_011540490.1:n.758+528A>G | |
| XM_011542189.1:c.626+528A>G | XP_011540491.1:n.626+528A>G | |
| XM_011542190.1:c.758+528A>G | XP_011540492.1:n.758+528A>G | |
| XR_946764.1:n.992+528A>G | ||
| XM_011542190.2:c.758+528A>G | XP_011540492.1:n.758+528A>G | |
| XM_017002386.1:c.254+528A>G | XP_016857875.1:n.254+528A>G | |
| XM_017002387.1:c.254+528A>G | XP_016857876.1:n.254+528A>G | |
| XM_017002388.1:c.254+528A>G | XP_016857877.1:n.254+528A>G | |
| XM_024449890.1:c.626+528A>G | XP_024305658.1:n.626+528A>G | |
| XM_024449891.1:c.626+528A>G | XP_024305659.1:n.626+528A>G | |
| XM_024449898.1:c.254+528A>G | XP_024305666.1:n.254+528A>G | |
| NM_024901.5:c.794+528A>G MANE Select | NP_079177.2:n.794+528A>G | |
| NM_001271833.2:c.785+528A>G | NP_001258762.1:n.785+528A>G |