Linked Data
ClinVar Variation Id:
1083312
ClinVar RCV Id:
RCV001399944
dbSNP Id:
rs762775355
gnomAD v3:
8-132175474-T-G
gnomAD v4:
8-132175474-T-G
MyVariant Identifiers:
chr8:g.133187721T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132175474T>G , CM000670.2:g.132175474T>G | GRCh38 |
| NC_000008.10:g.133187721T>G , CM000670.1:g.133187721T>G | GRCh37 |
| NC_000008.9:g.133256903T>G | NCBI36 |
| NG_008854.2:g.310284A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388996.10:c.912A>C MANE Select | ENSP00000373648.3:p.Ala304= | |
| ENST00000521134.6:c.552A>C | ENSP00000429799.1:p.Ala184= | |
| ENST00000638588.1:c.585A>C | ENSP00000491940.1:p.Ala195= | |
| ENST00000639358.1:c.562A>C | ||
| ENST00000639496.1:c.585A>C | ENSP00000491165.1:p.Ala195= | |
| ENST00000388996.8:c.912A>C | ENSP00000373648.3:p.Ala304= | |
| ENST00000519445.5:c.912A>C | ENSP00000428790.1:p.Ala304= | |
| ENST00000519589.1:n.690A>C | ||
| ENST00000521134.5:c.552A>C | ENSP00000429799.1:p.Ala184= | |
| ENST00000621976.1:c.549A>C | ENSP00000482510.1:p.Ala183= | |
| NM_001204824.1:c.552A>C | NP_001191753.1:p.Ala184= | |
| NM_004519.3:c.912A>C | NP_004510.1:p.Ala304= | |
| XM_005250914.2:c.-245A>C | XP_005250971.1:n.-245A>C | |
| XM_006716555.2:c.204A>C | XP_006716618.1:p.Ala68= | |
| XM_011517026.1:c.552A>C | XP_011515328.1:p.Ala184= | |
| XM_005250914.3:c.-245A>C | XP_005250971.1:n.-245A>C | |
| XM_006716555.3:c.204A>C | XP_006716618.1:p.Ala68= | |
| XM_011517026.2:c.552A>C | XP_011515328.1:p.Ala184= | |
| XM_017013400.1:c.690A>C | XP_016868889.1:p.Ala230= | |
| NM_004519.4:c.912A>C MANE Select | NP_004510.1:p.Ala304= | |
| NM_001204824.2:c.552A>C | NP_001191753.1:p.Ala184= |