Linked Data
ClinVar Variation Id:
345201
ClinVar RCV Id:
RCV000354540
dbSNP Id:
rs760135054
gnomAD v2:
3-43663472-A-G
gnomAD v3:
3-43621980-A-G
gnomAD v4:
3-43621980-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43621980A>G , CM000665.2:g.43621980A>G | GRCh38 |
| NC_000003.11:g.43663472A>G , CM000665.1:g.43663472A>G | GRCh37 |
| NC_000003.10:g.43638476A>G | NCBI36 |
| NG_028216.1:g.5089T>C | |
| NG_028216.2:g.74615T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292246.8:c.-83T>C MANE Select | ENSP00000292246.3:n.-83T>C | |
| ENST00000292246.7:c.-83T>C | ENSP00000292246.3:n.-83T>C | |
| ENST00000396091.7:c.-83T>C | ENSP00000379398.3:n.-83T>C | |
| ENST00000413397.5:c.-11-16117T>C | ENSP00000399103.1:n.-11-16117T>C | |
| ENST00000414522.6:c.-83T>C | ENSP00000396990.2:n.-83T>C | |
| ENST00000427171.5:c.-83T>C | ENSP00000406432.1:n.-83T>C | |
| ENST00000428472.5:c.-83T>C | ENSP00000416266.1:n.-83T>C | |
| ENST00000428831.1:c.-11-16117T>C | ENSP00000406712.1:n.-11-16117T>C | |
| ENST00000436073.1:c.-11-16117T>C | ENSP00000404988.1:n.-11-16117T>C | |
| ENST00000439141.5:c.-11-16117T>C | ENSP00000397360.1:n.-11-16117T>C | |
| ENST00000451430.6:c.-83T>C | ENSP00000394119.2:n.-83T>C | |
| NM_001204831.1:c.-83T>C | NP_001191760.1:n.-83T>C | |
| NM_001204832.1:c.-83T>C | NP_001191761.1:n.-83T>C | |
| NM_001204833.1:c.-83T>C | NP_001191762.1:n.-83T>C | |
| NM_001204834.1:c.-83T>C | NP_001191763.1:n.-83T>C | |
| NM_018075.3:c.-83T>C | NP_060545.3:n.-83T>C | |
| XM_011533882.1:c.-83T>C | XP_011532184.1:n.-83T>C | |
| XM_011533883.1:c.-11-16117T>C | XP_011532185.1:n.-11-16117T>C | |
| XM_011533884.1:c.-83T>C | XP_011532186.1:n.-83T>C | |
| XM_011533885.1:c.-83T>C | XP_011532187.1:n.-83T>C | |
| XM_011533886.1:c.-83T>C | XP_011532188.1:n.-83T>C | |
| XM_011533887.1:c.-83T>C | XP_011532189.1:n.-83T>C | |
| XM_011533888.1:c.-83T>C | XP_011532190.1:n.-83T>C | |
| XM_011533889.1:c.-83T>C | XP_011532191.1:n.-83T>C | |
| XM_011533890.1:c.-83T>C | XP_011532192.1:n.-83T>C | |
| NM_001204831.2:c.-83T>C | NP_001191760.1:n.-83T>C | |
| NM_001204832.2:c.-83T>C | NP_001191761.1:n.-83T>C | |
| NM_001204833.2:c.-83T>C | NP_001191762.1:n.-83T>C | |
| NM_001204834.2:c.-83T>C | NP_001191763.1:n.-83T>C | |
| NM_001346463.1:c.-83T>C | NP_001333392.1:n.-83T>C | |
| NM_001346464.1:c.-83T>C | NP_001333393.1:n.-83T>C | |
| NM_001346465.1:c.-83T>C | NP_001333394.1:n.-83T>C | |
| NM_001346468.1:c.-11-16117T>C | NP_001333397.1:n.-11-16117T>C | |
| NM_001346469.1:c.-11-16117T>C | NP_001333398.1:n.-11-16117T>C | |
| NM_018075.4:c.-83T>C | NP_060545.3:n.-83T>C | |
| XM_011533885.3:c.-83T>C | XP_011532187.2:n.-83T>C | |
| XM_011533889.3:c.-83T>C | XP_011532191.1:n.-83T>C | |
| XM_011533890.3:c.-83T>C | XP_011532192.1:n.-83T>C | |
| XM_017006717.2:c.-11-16117T>C | XP_016862206.1:n.-11-16117T>C | |
| XM_017006718.1:c.-83T>C | XP_016862207.1:n.-83T>C | |
| XM_017006719.2:c.-83T>C | XP_016862208.1:n.-83T>C | |
| XM_024453616.1:c.-83T>C | XP_024309384.1:n.-83T>C | |
| XM_024453617.1:c.-83T>C | XP_024309385.1:n.-83T>C | |
| XR_001740190.2:n.34T>C | ||
| NM_018075.5:c.-83T>C MANE Select | NP_060545.3:n.-83T>C | |
| NM_001204831.3:c.-83T>C | NP_001191760.1:n.-83T>C | |
| NM_001204832.3:c.-83T>C | NP_001191761.1:n.-83T>C | |
| NM_001204833.3:c.-83T>C | NP_001191762.1:n.-83T>C | |
| NM_001204834.3:c.-83T>C | NP_001191763.1:n.-83T>C | |
| NM_001346463.2:c.-83T>C | NP_001333392.1:n.-83T>C | |
| NM_001346464.2:c.-83T>C | NP_001333393.1:n.-83T>C | |
| NM_001346465.2:c.-83T>C | NP_001333394.1:n.-83T>C | |
| NM_001346466.2:c.-219T>C | NP_001333395.1:n.-219T>C | |
| NM_001346467.2:c.-219T>C | NP_001333396.1:n.-219T>C | |
| NM_001346468.2:c.-11-16117T>C | NP_001333397.1:n.-11-16117T>C | |
| NM_001346469.2:c.-11-16117T>C | NP_001333398.1:n.-11-16117T>C |