Linked Data
ClinVar Variation Id:
163131
dbSNP Id:
rs151080414
ExAC:
5:13700903 G / T
gnomAD v2:
5-13700903-G-T
gnomAD v3:
5-13700794-G-T
gnomAD v4:
5-13700794-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13700794G>T , CM000667.2:g.13700794G>T | GRCh38 |
| NC_000005.9:g.13700903G>T , CM000667.1:g.13700903G>T | GRCh37 |
| NC_000005.8:g.13753903G>T | NCBI36 |
| NG_013081.1:g.248687C>A | |
| NG_013081.2:g.248687C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.902C>A | ||
| ENST00000265104.5:c.13569C>A MANE Select | ENSP00000265104.4:p.Asp4523Glu | |
| ENST00000681290.1:c.13524C>A | ENSP00000505288.1:p.Asp4508Glu | |
| ENST00000265104.4:c.13569C>A | ENSP00000265104.4:p.Asp4523Glu | |
| NM_001369.2:c.13569C>A | NP_001360.1:p.Asp4523Glu | |
| XM_005248262.2:c.13524C>A | XP_005248319.1:p.Asp4508Glu | |
| XM_005248262.3:c.13677C>A | XP_005248319.2:p.Asp4559Glu | |
| XM_017009177.1:c.13257C>A | XP_016864666.1:p.Asp4419Glu | |
| XM_017009178.1:c.12582C>A | XP_016864667.1:p.Asp4194Glu | |
| XM_017009179.2:c.12582C>A | XP_016864668.1:p.Asp4194Glu | |
| XM_017009185.1:c.8766C>A | XP_016864674.1:p.Asp2922Glu | |
| XM_017009186.1:c.8319C>A | XP_016864675.1:p.Asp2773Glu | |
| XM_017009188.1:c.7656C>A | XP_016864677.1:p.Asp2552Glu | |
| XM_024454388.1:c.12582C>A | XP_024310156.1:p.Asp4194Glu | |
| XM_024454389.1:c.12171C>A | XP_024310157.1:p.Asp4057Glu | |
| NM_001369.3:c.13569C>A MANE Select | NP_001360.1:p.Asp4523Glu |