Linked Data
ClinVar Variation Id:
424442
ClinVar RCV Id:
RCV000483605
dbSNP Id:
rs753340463
ExAC:
13:36909900 G / T
gnomAD v2:
13-36909900-G-T
gnomAD v3:
13-36335763-G-T
gnomAD v4:
13-36335763-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.36335763G>T , CM000675.2:g.36335763G>T | GRCh38 |
| NC_000013.10:g.36909900G>T , CM000675.1:g.36909900G>T | GRCh37 |
| NC_000013.9:g.35807900G>T | NCBI36 |
| NG_011559.1:g.39418C>A | |
| NG_011559.2:g.39418C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438666.7:c.68C>A MANE Select | ENSP00000406061.2:p.Ala23Asp | |
| ENST00000650221.1:c.68C>A | ENSP00000497209.1:p.Ala23Asp | |
| ENST00000355182.8:c.68C>A | ENSP00000347314.4:p.Ala23Asp | |
| ENST00000438666.6:c.68C>A | ENSP00000406061.2:p.Ala23Asp | |
| ENST00000451493.5:c.68C>A | ENSP00000414147.1:p.Ala23Asp | |
| ENST00000476377.1:n.180C>A | ||
| ENST00000494062.2:c.68C>A | ENSP00000473599.1:p.Ala23Asp | |
| ENST00000494703.1:n.266C>A | ||
| ENST00000495510.1:n.129C>A | ||
| NM_001142294.1:c.68C>A | NP_001135766.1:p.Ala23Asp | |
| NM_001142295.1:c.68C>A | NP_001135767.1:p.Ala23Asp | |
| NM_001142296.1:c.68C>A | NP_001135768.1:p.Ala23Asp | |
| NM_015087.4:c.68C>A | NP_055902.1:p.Ala23Asp | |
| XM_005266313.3:c.68C>A | XP_005266370.1:p.Ala23Asp | |
| XM_005266314.2:c.68C>A | XP_005266371.1:p.Ala23Asp | |
| XM_005266315.2:c.68C>A | XP_005266372.1:p.Ala23Asp | |
| XM_005266316.2:c.68C>A | XP_005266373.1:p.Ala23Asp | |
| XM_005266317.2:c.68C>A | XP_005266374.1:p.Ala23Asp | |
| XM_011535012.1:c.68C>A | XP_011533314.1:p.Ala23Asp | |
| XR_941540.1:n.330C>A | ||
| XM_005266313.5:c.68C>A | XP_005266370.1:p.Ala23Asp | |
| XM_005266314.3:c.68C>A | XP_005266371.1:p.Ala23Asp | |
| XM_005266315.3:c.68C>A | XP_005266372.1:p.Ala23Asp | |
| XM_005266317.3:c.68C>A | XP_005266374.1:p.Ala23Asp | |
| XM_011535012.2:c.68C>A | XP_011533314.1:p.Ala23Asp | |
| XM_024449334.1:c.68C>A | XP_024305102.1:p.Ala23Asp | |
| XR_001749523.2:n.296C>A | ||
| NM_015087.5:c.68C>A MANE Select | NP_055902.1:p.Ala23Asp | |
| NM_001142296.2:c.68C>A | NP_001135768.1:p.Ala23Asp | |
| NM_001142294.2:c.68C>A | NP_001135766.1:p.Ala23Asp | |
| NM_001142295.2:c.68C>A | NP_001135767.1:p.Ala23Asp |