Linked Data
ClinVar Variation Id:
208251
dbSNP Id:
rs746702002
ExAC:
19:12776557 G / T
gnomAD:
19:12776557 G / T
PubMed:
PMID:22161967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12665743G>T , CM000681.2:g.12665743G>T | GRCh38 |
| NC_000019.9:g.12776557G>T , CM000681.1:g.12776557G>T | GRCh37 |
| NC_000019.8:g.12637557G>T | NCBI36 |
| NG_008318.1:g.6035C>A | |
| NG_015814.1:g.3940G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.222C>A MANE Select | ENSP00000395473.2:p.Asp74Glu | |
| ENST00000221363.8:c.222C>A | ENSP00000221363.4:p.Asp74Glu | |
| ENST00000456935.6:c.222C>A | ENSP00000395473.2:p.Asp74Glu | |
| ENST00000466794.5:n.204C>A | ||
| ENST00000486847.2:c.160-218C>A | ENSP00000470174.1:p.= | |
| ENST00000596512.5:n.201-218C>A | ||
| ENST00000597961.1:n.213C>A | ENSP00000472710.1:p.Asp71Glu | |
| ENST00000598876.1:c.249C>A | ENSP00000470533.1:p.Asp83Glu | |
| ENST00000600281.1:n.263C>A | ||
| NM_000528.3:c.222C>A | NP_000519.2:p.Asp74Glu | |
| NM_001173498.1:c.222C>A | NP_001166969.1:p.Asp74Glu | |
| XM_005259913.1:c.222C>A | XP_005259970.1:p.Asp74Glu | |
| XM_005259913.2:c.222C>A | XP_005259970.1:p.Asp74Glu | |
| XM_024451518.1:c.-797C>A | XP_024307286.1:p.= | |
| NM_000528.4:c.222C>A MANE Select | NP_000519.2:p.Asp74Glu | |
| NM_001173498.2:c.222C>A | NP_001166969.1:p.Asp74Glu |