Linked Data
ClinVar Variation Id:
379832
dbSNP Id:
rs200373703
ExAC:
13:36888478 G / A
gnomAD v2:
13-36888478-G-A
gnomAD v3:
13-36314341-G-A
gnomAD v4:
13-36314341-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.36314341G>A , CM000675.2:g.36314341G>A | GRCh38 |
| NC_000013.10:g.36888478G>A , CM000675.1:g.36888478G>A | GRCh37 |
| NC_000013.9:g.35786478G>A | NCBI36 |
| NG_011559.1:g.60840C>T | |
| NG_011559.2:g.60840C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000438666.7:c.1369C>T MANE Select | ENSP00000406061.2:p.Arg457Ter | |
| ENST00000650221.1:c.1369C>T | ENSP00000497209.1:p.Arg457Ter | |
| ENST00000355182.8:c.1369C>T | ENSP00000347314.4:p.Arg457Ter | |
| ENST00000438666.6:c.1369C>T | ENSP00000406061.2:p.Arg457Ter | |
| ENST00000451493.5:c.1369C>T | ENSP00000414147.1:p.Arg457Ter | |
| ENST00000475603.5:n.130C>T | ||
| ENST00000482146.1:n.101C>T | ||
| ENST00000494062.2:c.1369C>T | ENSP00000473599.1:p.Arg457Ter | |
| NM_001142294.1:c.1369C>T | NP_001135766.1:p.Arg457Ter | |
| NM_001142295.1:c.1369C>T | NP_001135767.1:p.Arg457Ter | |
| NM_001142296.1:c.1369C>T | NP_001135768.1:p.Arg457Ter | |
| NM_015087.4:c.1369C>T | NP_055902.1:p.Arg457Ter | |
| XM_005266313.3:c.1369C>T | XP_005266370.1:p.Arg457Ter | |
| XM_005266314.2:c.1369C>T | XP_005266371.1:p.Arg457Ter | |
| XM_005266315.2:c.1369C>T | XP_005266372.1:p.Arg457Ter | |
| XM_005266316.2:c.1369C>T | XP_005266373.1:p.Arg457Ter | |
| XM_005266317.2:c.1369C>T | XP_005266374.1:p.Arg457Ter | |
| XM_011535012.1:c.1369C>T | XP_011533314.1:p.Arg457Ter | |
| XR_941540.1:n.1631C>T | ||
| XM_005266313.5:c.1369C>T | XP_005266370.1:p.Arg457Ter | |
| XM_005266314.3:c.1369C>T | XP_005266371.1:p.Arg457Ter | |
| XM_005266315.3:c.1369C>T | XP_005266372.1:p.Arg457Ter | |
| XM_005266317.3:c.1369C>T | XP_005266374.1:p.Arg457Ter | |
| XM_011535012.2:c.1369C>T | XP_011533314.1:p.Arg457Ter | |
| XM_024449334.1:c.1369C>T | XP_024305102.1:p.Arg457Ter | |
| XR_001749523.2:n.1597C>T | ||
| NM_015087.5:c.1369C>T MANE Select | NP_055902.1:p.Arg457Ter | |
| NM_001142296.2:c.1369C>T | NP_001135768.1:p.Arg457Ter | |
| NM_001142294.2:c.1369C>T | NP_001135766.1:p.Arg457Ter | |
| NM_001142295.2:c.1369C>T | NP_001135767.1:p.Arg457Ter |