Linked Data
dbSNP Id:
rs1113990
gnomAD v2:
8-28702799-C-G
gnomAD v3:
8-28845282-C-G
gnomAD v4:
8-28845282-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.28845282C>G , CM000670.2:g.28845282C>G | GRCh38 |
| NC_000008.10:g.28702799C>G , CM000670.1:g.28702799C>G | GRCh37 |
| NC_000008.9:g.28758718C>G | NCBI36 |
| NG_016981.1:g.49900G>C | |
| NG_016981.2:g.49900G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000521022.6:c.261+1465G>C MANE Select | ENSP00000429065.1:n.261+1465G>C | |
| ENST00000416984.6:c.198+4931G>C | ENSP00000398208.2:n.198+4931G>C | |
| ENST00000518510.5:c.261+1465G>C | ENSP00000428135.1:n.261+1465G>C | |
| ENST00000520184.1:c.189+1465G>C | ENSP00000429188.1:n.189+1465G>C | |
| ENST00000520437.1:c.69-7506G>C | ENSP00000430067.1:n.69-7506G>C | |
| ENST00000520983.5:n.300+1465G>C | ||
| ENST00000521022.5:c.261+1465G>C | ENSP00000429065.1:n.261+1465G>C | |
| ENST00000521777.5:c.189+1465G>C | ENSP00000430943.1:n.189+1465G>C | |
| ENST00000522363.5:c.70+4931G>C | ENSP00000430083.1:n.70+4931G>C | |
| ENST00000523303.5:c.261+1465G>C | ENSP00000427952.1:n.261+1465G>C | |
| ENST00000523436.5:c.261+1465G>C | ENSP00000427789.1:n.261+1465G>C | |
| ENST00000524081.5:c.235+1465G>C | ||
| NM_001145159.2:c.198+4931G>C | NP_001138631.1:n.198+4931G>C | |
| NM_001172562.1:c.189+1465G>C | NP_001166033.1:n.189+1465G>C | |
| NM_018250.3:c.261+1465G>C | NP_060720.2:n.261+1465G>C | |
| NR_026826.2:n.369+4931G>C | ||
| XM_006716356.2:c.261+1465G>C | XP_006716419.1:n.261+1465G>C | |
| XM_006716357.2:c.261+1465G>C | XP_006716420.1:n.261+1465G>C | |
| XM_011544573.1:c.198+4931G>C | XP_011542875.1:n.198+4931G>C | |
| XM_011544574.1:c.189+1465G>C | XP_011542876.1:n.189+1465G>C | |
| XM_011544575.1:c.189+1465G>C | XP_011542877.1:n.189+1465G>C | |
| XM_011544576.1:c.261+1465G>C | XP_011542878.1:n.261+1465G>C | |
| NM_001363038.1:c.261+1465G>C | NP_001349967.1:n.261+1465G>C | |
| XM_006716357.4:c.261+1465G>C | XP_006716420.1:n.261+1465G>C | |
| XM_011544575.2:c.189+1465G>C | XP_011542877.1:n.189+1465G>C | |
| XM_011544576.2:c.261+1465G>C | XP_011542878.1:n.261+1465G>C | |
| NM_018250.4:c.261+1465G>C MANE Select | NP_060720.2:n.261+1465G>C | |
| NM_001363038.2:c.261+1465G>C | NP_001349967.1:n.261+1465G>C | |
| NM_001145159.3:c.198+4931G>C | NP_001138631.1:n.198+4931G>C | |
| NM_001172562.2:c.189+1465G>C | NP_001166033.1:n.189+1465G>C | |
| NR_026826.3:n.157+4931G>C |