Linked Data
ClinVar Variation Id:
1230199
ClinVar RCV Id:
RCV001614656
dbSNP Id:
rs78854954
gnomAD v2:
8-133187409-A-G
gnomAD v3:
8-132175162-A-G
gnomAD v4:
8-132175162-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132175162A>G , CM000670.2:g.132175162A>G | GRCh38 |
| NC_000008.10:g.133187409A>G , CM000670.1:g.133187409A>G | GRCh37 |
| NC_000008.9:g.133256591A>G | NCBI36 |
| NG_008854.2:g.310596T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388996.10:c.933+291T>C MANE Select | ENSP00000373648.3:n.933+291T>C | |
| ENST00000521134.6:c.573+291T>C | ENSP00000429799.1:n.573+291T>C | |
| ENST00000638588.1:c.606+291T>C | ENSP00000491940.1:n.606+291T>C | |
| ENST00000639358.1:c.583+291T>C | ||
| ENST00000639496.1:c.606+291T>C | ENSP00000491165.1:n.606+291T>C | |
| ENST00000388996.8:c.933+291T>C | ENSP00000373648.3:n.933+291T>C | |
| ENST00000519445.5:c.933+291T>C | ENSP00000428790.1:n.933+291T>C | |
| ENST00000519589.1:n.711+291T>C | ||
| ENST00000521134.5:c.573+291T>C | ENSP00000429799.1:n.573+291T>C | |
| ENST00000621976.1:c.570+291T>C | ENSP00000482510.1:n.570+291T>C | |
| NM_001204824.1:c.573+291T>C | NP_001191753.1:n.573+291T>C | |
| NM_004519.3:c.933+291T>C | NP_004510.1:n.933+291T>C | |
| XM_005250914.2:c.-224+291T>C | XP_005250971.1:n.-224+291T>C | |
| XM_006716555.2:c.225+291T>C | XP_006716618.1:n.225+291T>C | |
| XM_011517026.1:c.573+291T>C | XP_011515328.1:n.573+291T>C | |
| XM_005250914.3:c.-224+291T>C | XP_005250971.1:n.-224+291T>C | |
| XM_006716555.3:c.225+291T>C | XP_006716618.1:n.225+291T>C | |
| XM_011517026.2:c.573+291T>C | XP_011515328.1:n.573+291T>C | |
| XM_017013400.1:c.711+291T>C | XP_016868889.1:n.711+291T>C | |
| NM_004519.4:c.933+291T>C MANE Select | NP_004510.1:n.933+291T>C | |
| NM_001204824.2:c.573+291T>C | NP_001191753.1:n.573+291T>C |