Linked Data
ClinVar Variation Id:
137577
dbSNP Id:
rs2230792
ExAC:
9:111660851 C / T
gnomAD v2:
9-111660851-C-T
gnomAD v3:
9-108898571-C-T
gnomAD v4:
9-108898571-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108898571C>T , CM000671.2:g.108898571C>T | GRCh38 |
| NC_000009.11:g.111660851C>T , CM000671.1:g.111660851C>T | GRCh37 |
| NC_000009.10:g.110700672C>T | NCBI36 |
| NG_008788.1:g.40758G>A , LRG_251:g.40758G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374647.10:c.2294G>A MANE Select | ENSP00000363779.5:p.Gly765Glu | |
| ENST00000495759.6:c.*904G>A | ENSP00000433514.2:n.*904G>A | |
| ENST00000674535.1:c.2294G>A | ENSP00000502142.1:p.Gly765Glu | |
| ENST00000674704.1:n.4101G>A | ||
| ENST00000674836.1:n.2599G>A | ||
| ENST00000674890.1:c.2294G>A | ENSP00000501870.1:p.Gly765Glu | |
| ENST00000674938.1:c.1952G>A | ENSP00000502427.1:p.Gly651Glu | |
| ENST00000674948.1:c.1952G>A | ENSP00000501602.1:p.Gly651Glu | |
| ENST00000675052.1:c.2294G>A | ENSP00000502664.1:p.Gly765Glu | |
| ENST00000675078.1:c.2294G>A | ENSP00000501549.1:p.Gly765Glu | |
| ENST00000675215.1:c.*1518G>A | ENSP00000502558.1:n.*1518G>A | |
| ENST00000675233.1:n.4121G>A | ||
| ENST00000675321.1:c.2294G>A | ENSP00000502751.1:p.Gly765Glu | |
| ENST00000675325.1:n.4090G>A | ||
| ENST00000675335.1:c.2325G>A | ENSP00000502182.1:n.2325G>A | |
| ENST00000675400.1:n.3967G>A | ||
| ENST00000675406.1:c.2294G>A | ENSP00000501893.1:p.Gly765Glu | |
| ENST00000675458.1:c.2387G>A | ENSP00000501754.1:n.2387G>A | |
| ENST00000675507.1:n.4090G>A | ||
| ENST00000675535.1:c.2294G>A | ENSP00000501667.1:p.Gly765Glu | |
| ENST00000675566.1:n.4090G>A | ||
| ENST00000675602.1:n.5342G>A | ||
| ENST00000675647.1:n.2599G>A | ||
| ENST00000675711.1:c.2294G>A | ENSP00000502485.1:p.Gly765Glu | |
| ENST00000675727.1:c.2294G>A | ENSP00000501722.1:p.Gly765Glu | |
| ENST00000675748.1:n.3928G>A | ||
| ENST00000675765.1:c.2294G>A | ENSP00000502640.1:p.Gly765Glu | |
| ENST00000675825.1:c.2294G>A | ENSP00000502632.1:p.Gly765Glu | |
| ENST00000675877.1:n.2599G>A | ||
| ENST00000675893.1:c.*3363G>A | ENSP00000502001.1:n.*3363G>A | |
| ENST00000675943.1:n.5909G>A | ||
| ENST00000675979.1:c.*1537G>A | ENSP00000502208.1:n.*1537G>A | |
| ENST00000676044.1:c.2294G>A | ENSP00000502378.1:p.Gly765Glu | |
| ENST00000676086.1:n.4079G>A | ||
| ENST00000676121.1:n.4122G>A | ||
| ENST00000676237.1:c.2195G>A | ENSP00000501828.1:p.Gly732Glu | |
| ENST00000676416.1:c.1952G>A | ENSP00000501660.1:p.Gly651Glu | |
| ENST00000676424.1:n.4090G>A | ||
| ENST00000676429.1:n.6763G>A | ||
| ENST00000374647.9:c.2294G>A | ENSP00000363779.5:p.Gly765Glu | |
| ENST00000537196.1:c.1247G>A | ENSP00000439367.1:p.Gly416Glu | |
| NM_003640.3:c.2294G>A , LRG_251t1:c.2294G>A | NP_003631.2:p.Gly765Glu | |
| XM_005252285.2:c.1952G>A | XP_005252342.1:p.Gly651Glu | |
| XM_011519136.1:c.2294G>A | XP_011517438.1:p.Gly765Glu | |
| XM_011519137.1:c.1952G>A | XP_011517439.1:p.Gly651Glu | |
| XR_929859.1:n.2610G>A | ||
| NM_001318360.1:c.1952G>A | NP_001305289.1:p.Gly651Glu | |
| NM_001330749.1:c.1247G>A | NP_001317678.1:p.Gly416Glu | |
| NM_003640.4:c.2294G>A | NP_003631.2:p.Gly765Glu | |
| XM_011519136.2:c.2294G>A | XP_011517438.1:p.Gly765Glu | |
| XR_929859.3:n.2621G>A | ||
| NM_003640.5:c.2294G>A MANE Select | NP_003631.2:p.Gly765Glu | |
| NM_001318360.2:c.1952G>A | NP_001305289.1:p.Gly651Glu | |
| NM_001330749.2:c.1247G>A | NP_001317678.1:p.Gly416Glu |