Linked Data
ClinVar Variation Id:
135635
ClinVar RCV Id:
RCV000122609
dbSNP Id:
rs11548854
PubMed:
PMID:26785492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.95534044C>A , CM000674.2:g.95534044C>A | GRCh38 |
| NC_000012.11:g.95927820C>A , CM000674.1:g.95927820C>A | GRCh37 |
| NC_000012.10:g.94451951C>A | NCBI36 |
| NG_052622.1:g.22486G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258499.8:c.213G>T MANE Select | ENSP00000258499.3:p.Glu71Asp | |
| ENST00000258499.7:c.213G>T | ENSP00000258499.3:p.Glu71Asp | |
| ENST00000393091.6:c.213G>T | ENSP00000376806.2:p.Glu71Asp | |
| ENST00000537435.2:c.213G>T | ENSP00000442629.2:p.Glu71Asp | |
| ENST00000549639.1:c.213G>T | ENSP00000449635.1:p.Glu71Asp | |
| ENST00000551837.1:c.213G>T | ENSP00000448601.1:p.Glu71Asp | |
| ENST00000552440.5:c.213G>T | ENSP00000448670.1:p.Glu71Asp | |
| NM_001042403.2:c.213G>T | NP_001035862.1:p.Glu71Asp | |
| NM_001278393.1:c.213G>T | NP_001265322.1:p.Glu71Asp | |
| NM_032147.4:c.213G>T | NP_115523.2:p.Glu71Asp | |
| NR_125360.1:n.283G>T | ||
| XM_005269172.1:c.213G>T | XP_005269229.1:p.Glu71Asp | |
| XM_005269173.1:c.213G>T | XP_005269230.1:p.Glu71Asp | |
| XM_005269174.1:c.213G>T | XP_005269231.1:p.Glu71Asp | |
| XM_006719628.1:c.213G>T | XP_006719691.1:p.Glu71Asp | |
| XM_011538800.1:c.213G>T | XP_011537102.1:p.Glu71Asp | |
| XM_011538801.1:c.213G>T | XP_011537103.1:p.Glu71Asp | |
| XM_011538802.1:c.213G>T | XP_011537104.1:p.Glu71Asp | |
| XM_011538803.1:c.213G>T | XP_011537105.1:p.Glu71Asp | |
| XM_011538804.1:c.213G>T | XP_011537106.1:p.Glu71Asp | |
| XM_011538805.1:c.213G>T | XP_011537107.1:p.Glu71Asp | |
| XM_011538806.1:c.213G>T | XP_011537108.1:p.Glu71Asp | |
| XR_944757.1:n.496G>T | ||
| XR_944758.1:n.574G>T | ||
| NM_001347936.1:c.213G>T | NP_001334865.1:p.Glu71Asp | |
| NM_001347937.1:c.213G>T | NP_001334866.1:p.Glu71Asp | |
| NR_125360.2:n.411G>T | ||
| NR_144944.1:n.602G>T | ||
| NR_144945.1:n.357G>T | ||
| NR_144946.1:n.357G>T | ||
| NR_144947.1:n.357G>T | ||
| NR_144948.1:n.602G>T | ||
| XM_011538800.2:c.213G>T | XP_011537102.1:p.Glu71Asp | |
| XM_011538804.2:c.213G>T | XP_011537106.1:p.Glu71Asp | |
| XM_011538805.2:c.213G>T | XP_011537107.1:p.Glu71Asp | |
| XM_011538806.2:c.213G>T | XP_011537108.1:p.Glu71Asp | |
| XM_017020010.2:c.213G>T | XP_016875499.1:p.Glu71Asp | |
| XM_017020012.1:c.213G>T | XP_016875501.1:p.Glu71Asp | |
| XR_001748887.1:n.496G>T | ||
| NM_032147.5:c.213G>T MANE Select | NP_115523.2:p.Glu71Asp | |
| NM_001042403.3:c.213G>T | NP_001035862.1:p.Glu71Asp | |
| NM_001278393.2:c.213G>T | NP_001265322.1:p.Glu71Asp | |
| NM_001347936.2:c.213G>T | NP_001334865.1:p.Glu71Asp | |
| NM_001347937.2:c.213G>T | NP_001334866.1:p.Glu71Asp | |
| NR_125360.3:n.369G>T | ||
| NR_144944.2:n.560G>T | ||
| NR_144945.2:n.315G>T | ||
| NR_144946.2:n.315G>T | ||
| NR_144947.2:n.315G>T | ||
| NR_144948.2:n.560G>T |