Linked Data
ClinVar Variation Id:
216687
dbSNP Id:
rs148833652
ExAC:
13:36900828 T / C
gnomAD v2:
13-36900828-T-C
gnomAD v3:
13-36326691-T-C
gnomAD v4:
13-36326691-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.36326691T>C , CM000675.2:g.36326691T>C | GRCh38 |
| NC_000013.10:g.36900828T>C , CM000675.1:g.36900828T>C | GRCh37 |
| NC_000013.9:g.35798828T>C | NCBI36 |
| NG_011559.1:g.48490A>G | |
| NG_011559.2:g.48490A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438666.7:c.1172A>G MANE Select | ENSP00000406061.2:p.Asp391Gly | |
| ENST00000650221.1:c.1172A>G | ENSP00000497209.1:p.Asp391Gly | |
| ENST00000355182.8:c.1172A>G | ENSP00000347314.4:p.Asp391Gly | |
| ENST00000438666.6:c.1172A>G | ENSP00000406061.2:p.Asp391Gly | |
| ENST00000451493.5:c.1172A>G | ENSP00000414147.1:p.Asp391Gly | |
| ENST00000494062.2:c.1172A>G | ENSP00000473599.1:p.Asp391Gly | |
| ENST00000495510.1:n.1233A>G | ||
| NM_001142294.1:c.1172A>G | NP_001135766.1:p.Asp391Gly | |
| NM_001142295.1:c.1172A>G | NP_001135767.1:p.Asp391Gly | |
| NM_001142296.1:c.1172A>G | NP_001135768.1:p.Asp391Gly | |
| NM_015087.4:c.1172A>G | NP_055902.1:p.Asp391Gly | |
| XM_005266313.3:c.1172A>G | XP_005266370.1:p.Asp391Gly | |
| XM_005266314.2:c.1172A>G | XP_005266371.1:p.Asp391Gly | |
| XM_005266315.2:c.1172A>G | XP_005266372.1:p.Asp391Gly | |
| XM_005266316.2:c.1172A>G | XP_005266373.1:p.Asp391Gly | |
| XM_005266317.2:c.1172A>G | XP_005266374.1:p.Asp391Gly | |
| XM_011535012.1:c.1172A>G | XP_011533314.1:p.Asp391Gly | |
| XR_941540.1:n.1434A>G | ||
| XM_005266313.5:c.1172A>G | XP_005266370.1:p.Asp391Gly | |
| XM_005266314.3:c.1172A>G | XP_005266371.1:p.Asp391Gly | |
| XM_005266315.3:c.1172A>G | XP_005266372.1:p.Asp391Gly | |
| XM_005266317.3:c.1172A>G | XP_005266374.1:p.Asp391Gly | |
| XM_011535012.2:c.1172A>G | XP_011533314.1:p.Asp391Gly | |
| XM_024449334.1:c.1172A>G | XP_024305102.1:p.Asp391Gly | |
| XR_001749523.2:n.1400A>G | ||
| NM_015087.5:c.1172A>G MANE Select | NP_055902.1:p.Asp391Gly | |
| NM_001142296.2:c.1172A>G | NP_001135768.1:p.Asp391Gly | |
| NM_001142294.2:c.1172A>G | NP_001135766.1:p.Asp391Gly | |
| NM_001142295.2:c.1172A>G | NP_001135767.1:p.Asp391Gly |