Linked Data
ClinVar Variation Id:
2731147
ClinVar RCV Id:
RCV003579928
dbSNP Id:
rs748978132
ExAC:
3:43618425 G / A
gnomAD v2:
3-43618425-G-A
gnomAD v4:
3-43576933-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43576933G>A , CM000665.2:g.43576933G>A | GRCh38 |
| NC_000003.11:g.43618425G>A , CM000665.1:g.43618425G>A | GRCh37 |
| NC_000003.10:g.43593429G>A | NCBI36 |
| NG_028216.1:g.50136C>T | |
| NG_028216.2:g.119662C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292246.8:c.921C>T MANE Select | ENSP00000292246.3:p.Ser307= | |
| ENST00000292246.7:c.921C>T | ENSP00000292246.3:p.Ser307= | |
| ENST00000350459.8:c.593-2069C>T | ENSP00000327767.4:n.593-2069C>T | |
| ENST00000396091.7:c.723C>T | ENSP00000379398.3:p.Ser241= | |
| ENST00000414522.6:c.921C>T | ENSP00000396990.2:p.Ser307= | |
| ENST00000427171.5:c.473-11206C>T | ENSP00000406432.1:n.473-11206C>T | |
| ENST00000451430.6:c.588C>T | ENSP00000394119.2:p.Ser196= | |
| NM_001204831.1:c.921C>T | NP_001191760.1:p.Ser307= | |
| NM_001204832.1:c.723C>T | NP_001191761.1:p.Ser241= | |
| NM_001204833.1:c.588C>T | NP_001191762.1:p.Ser196= | |
| NM_001204834.1:c.593-2069C>T | NP_001191763.1:n.593-2069C>T | |
| NM_018075.3:c.921C>T | NP_060545.3:p.Ser307= | |
| XM_011533882.1:c.921C>T | XP_011532184.1:p.Ser307= | |
| XM_011533883.1:c.921C>T | XP_011532185.1:p.Ser307= | |
| XM_011533884.1:c.921C>T | XP_011532186.1:p.Ser307= | |
| XM_011533885.1:c.921C>T | XP_011532187.1:p.Ser307= | |
| XM_011533886.1:c.921C>T | XP_011532188.1:p.Ser307= | |
| XM_011533887.1:c.921C>T | XP_011532189.1:p.Ser307= | |
| XM_011533888.1:c.723C>T | XP_011532190.1:p.Ser241= | |
| XM_011533889.1:c.921C>T | XP_011532191.1:p.Ser307= | |
| XM_011533890.1:c.921C>T | XP_011532192.1:p.Ser307= | |
| NM_001204831.2:c.921C>T | NP_001191760.1:p.Ser307= | |
| NM_001204832.2:c.723C>T | NP_001191761.1:p.Ser241= | |
| NM_001204833.2:c.588C>T | NP_001191762.1:p.Ser196= | |
| NM_001204834.2:c.593-2069C>T | NP_001191763.1:n.593-2069C>T | |
| NM_001346463.1:c.921C>T | NP_001333392.1:p.Ser307= | |
| NM_001346464.1:c.921C>T | NP_001333393.1:p.Ser307= | |
| NM_001346465.1:c.921C>T | NP_001333394.1:p.Ser307= | |
| NM_001346466.1:c.723C>T | NP_001333395.1:p.Ser241= | |
| NM_001346467.1:c.921C>T | NP_001333396.1:p.Ser307= | |
| NM_001346468.1:c.921C>T | NP_001333397.1:p.Ser307= | |
| NM_001346469.1:c.723C>T | NP_001333398.1:p.Ser241= | |
| NM_018075.4:c.921C>T | NP_060545.3:p.Ser307= | |
| XM_011533885.3:c.921C>T | XP_011532187.2:p.Ser307= | |
| XM_011533889.3:c.921C>T | XP_011532191.1:p.Ser307= | |
| XM_011533890.3:c.921C>T | XP_011532192.1:p.Ser307= | |
| XM_017006717.2:c.921C>T | XP_016862206.1:p.Ser307= | |
| XM_017006718.1:c.921C>T | XP_016862207.1:p.Ser307= | |
| XM_017006719.2:c.723C>T | XP_016862208.1:p.Ser241= | |
| XM_024453616.1:c.921C>T | XP_024309384.1:p.Ser307= | |
| XM_024453617.1:c.723C>T | XP_024309385.1:p.Ser241= | |
| XR_001740190.2:n.1037C>T | ||
| NM_018075.5:c.921C>T MANE Select | NP_060545.3:p.Ser307= | |
| NM_001204831.3:c.921C>T | NP_001191760.1:p.Ser307= | |
| NM_001204832.3:c.723C>T | NP_001191761.1:p.Ser241= | |
| NM_001204833.3:c.588C>T | NP_001191762.1:p.Ser196= | |
| NM_001204834.3:c.593-2069C>T | NP_001191763.1:n.593-2069C>T | |
| NM_001346463.2:c.921C>T | NP_001333392.1:p.Ser307= | |
| NM_001346464.2:c.921C>T | NP_001333393.1:p.Ser307= | |
| NM_001346465.2:c.921C>T | NP_001333394.1:p.Ser307= | |
| NM_001346466.2:c.723C>T | NP_001333395.1:p.Ser241= | |
| NM_001346467.2:c.921C>T | NP_001333396.1:p.Ser307= | |
| NM_001346468.2:c.921C>T | NP_001333397.1:p.Ser307= | |
| NM_001346469.2:c.723C>T | NP_001333398.1:p.Ser241= |