Linked Data
ClinVar Variation Id:
8304
dbSNP Id:
rs121909272
gnomAD v2:
19-1398979-C-T
gnomAD v4:
19-1398980-C-T
PubMed:
PMID:15651030
ERepo:
CA254379/MONDO:0012999/026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1398980C>T , CM000681.2:g.1398980C>T | GRCh38 |
| NC_000019.9:g.1398979C>T , CM000681.1:g.1398979C>T | GRCh37 |
| NC_000019.8:g.1349979C>T | NCBI36 |
| NG_009785.1:g.7574G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252288.8:c.506G>A MANE Select | ENSP00000252288.1:p.Cys169Tyr | |
| ENST00000447102.8:c.506G>A | ENSP00000403536.2:p.Cys169Tyr | |
| ENST00000591788.3:c.189G>A | ||
| ENST00000640164.1:n.339G>A | ||
| ENST00000640762.1:c.437G>A | ENSP00000492031.1:p.Cys146Tyr | |
| ENST00000252288.6:c.506G>A | ENSP00000252288.1:p.Cys169Tyr | |
| ENST00000447102.7:c.506G>A | ENSP00000403536.2:p.Cys169Tyr | |
| ENST00000591788.2:c.191G>A | ENSP00000466341.2:p.Cys64Tyr | |
| NM_000156.5:c.506G>A | NP_000147.1:p.Cys169Tyr | |
| NM_138924.2:c.506G>A | NP_620279.1:p.Cys169Tyr | |
| NM_000156.6:c.506G>A MANE Select | NP_000147.1:p.Cys169Tyr | |
| NM_138924.3:c.506G>A | NP_620279.1:p.Cys169Tyr |