Linked Data
ClinVar Variation Id:
2806142
ClinVar RCV Id:
RCV003679577
dbSNP Id:
rs1829488367
gnomAD v3:
9-108917574-T-C
gnomAD v4:
9-108917574-T-C
MyVariant Identifiers:
chr9:g.111679854T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108917574T>C , CM000671.2:g.108917574T>C | GRCh38 |
| NC_000009.11:g.111679854T>C , CM000671.1:g.111679854T>C | GRCh37 |
| NC_000009.10:g.110719675T>C | NCBI36 |
| NG_008788.1:g.21755A>G , LRG_251:g.21755A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374647.10:c.837A>G MANE Select | ENSP00000363779.5:p.Thr279= | |
| ENST00000495759.6:c.552+5268A>G | ENSP00000433514.2:n.552+5268A>G | |
| ENST00000674535.1:c.837A>G | ENSP00000502142.1:p.Thr279= | |
| ENST00000674704.1:n.2644A>G | ||
| ENST00000674836.1:n.1142A>G | ||
| ENST00000674890.1:c.837A>G | ENSP00000501870.1:p.Thr279= | |
| ENST00000674938.1:c.495A>G | ENSP00000502427.1:p.Thr165= | |
| ENST00000674948.1:c.495A>G | ENSP00000501602.1:p.Thr165= | |
| ENST00000675052.1:c.837A>G | ENSP00000502664.1:p.Thr279= | |
| ENST00000675078.1:c.837A>G | ENSP00000501549.1:p.Thr279= | |
| ENST00000675215.1:c.*61A>G | ENSP00000502558.1:n.*61A>G | |
| ENST00000675233.1:n.2633A>G | ||
| ENST00000675321.1:c.837A>G | ENSP00000502751.1:p.Thr279= | |
| ENST00000675325.1:n.2633A>G | ||
| ENST00000675335.1:c.837A>G | ENSP00000502182.1:p.Thr279= | |
| ENST00000675400.1:n.2510A>G | ||
| ENST00000675406.1:c.837A>G | ENSP00000501893.1:p.Thr279= | |
| ENST00000675458.1:c.930A>G | ENSP00000501754.1:n.930A>G | |
| ENST00000675507.1:n.2633A>G | ||
| ENST00000675535.1:c.837A>G | ENSP00000501667.1:p.Thr279= | |
| ENST00000675566.1:n.2633A>G | ||
| ENST00000675602.1:n.2636A>G | ||
| ENST00000675647.1:n.1142A>G | ||
| ENST00000675711.1:c.837A>G | ENSP00000502485.1:p.Thr279= | |
| ENST00000675727.1:c.837A>G | ENSP00000501722.1:p.Thr279= | |
| ENST00000675748.1:n.2471A>G | ||
| ENST00000675765.1:c.837A>G | ENSP00000502640.1:p.Thr279= | |
| ENST00000675825.1:c.837A>G | ENSP00000502632.1:p.Thr279= | |
| ENST00000675877.1:n.1142A>G | ||
| ENST00000675893.1:c.*1906A>G | ENSP00000502001.1:n.*1906A>G | |
| ENST00000675943.1:n.2633A>G | ||
| ENST00000675979.1:c.*80A>G | ENSP00000502208.1:n.*80A>G | |
| ENST00000676044.1:c.837A>G | ENSP00000502378.1:p.Thr279= | |
| ENST00000676086.1:n.2633A>G | ||
| ENST00000676121.1:n.2665A>G | ||
| ENST00000676237.1:c.738A>G | ENSP00000501828.1:p.Thr246= | |
| ENST00000676416.1:c.495A>G | ENSP00000501660.1:p.Thr165= | |
| ENST00000676424.1:n.2633A>G | ||
| ENST00000676429.1:n.5306A>G | ||
| ENST00000374647.9:c.837A>G | ENSP00000363779.5:p.Thr279= | |
| ENST00000537196.1:c.-211A>G | ENSP00000439367.1:n.-211A>G | |
| NM_003640.3:c.837A>G , LRG_251t1:c.837A>G | NP_003631.2:p.Thr279= | |
| XM_005252285.2:c.495A>G | XP_005252342.1:p.Thr165= | |
| XM_011519136.1:c.837A>G | XP_011517438.1:p.Thr279= | |
| XM_011519137.1:c.495A>G | XP_011517439.1:p.Thr165= | |
| XR_929859.1:n.1153A>G | ||
| NM_001318360.1:c.495A>G | NP_001305289.1:p.Thr165= | |
| NM_001330749.1:c.-211A>G | NP_001317678.1:n.-211A>G | |
| NM_003640.4:c.837A>G | NP_003631.2:p.Thr279= | |
| XM_011519136.2:c.837A>G | XP_011517438.1:p.Thr279= | |
| XR_929859.3:n.1164A>G | ||
| NM_003640.5:c.837A>G MANE Select | NP_003631.2:p.Thr279= | |
| NM_001318360.2:c.495A>G | NP_001305289.1:p.Thr165= | |
| NM_001330749.2:c.-211A>G | NP_001317678.1:n.-211A>G |