Linked Data
ClinVar Variation Id:
288558
dbSNP Id:
rs4148211
ExAC:
2:44071743 A / G
gnomAD v2:
2-44071743-A-G
gnomAD v3:
2-43844604-A-G
gnomAD v4:
2-43844604-A-G
PubMed:
PMID:17827468
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43844604A>G , CM000664.2:g.43844604A>G | GRCh38 |
| NC_000002.11:g.44071743A>G , CM000664.1:g.44071743A>G | GRCh37 |
| NC_000002.10:g.43925247A>G | NCBI36 |
| NG_008884.1:g.10641A>G | |
| NG_008884.2:g.17663A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272286.4:c.161A>G MANE Select | ENSP00000272286.2:p.Tyr54Cys | |
| ENST00000643284.1:n.618A>G | ||
| ENST00000644611.1:c.173A>G | ENSP00000495423.1:p.Tyr58Cys | |
| ENST00000272286.2:c.161A>G | ENSP00000272286.2:p.Tyr54Cys | |
| NM_022437.2:c.161A>G | NP_071882.1:p.Tyr54Cys | |
| XM_005264483.2:c.161A>G | XP_005264540.1:p.Tyr54Cys | |
| XM_011533029.1:c.173A>G | XP_011531331.1:p.Tyr58Cys | |
| XM_011533030.1:c.173A>G | XP_011531332.1:p.Tyr58Cys | |
| XM_011533031.1:c.-56A>G | XP_011531333.1:n.-56A>G | |
| XR_939707.1:n.663A>G | ||
| NM_001357321.1:c.161A>G | NP_001344250.1:p.Tyr54Cys | |
| XM_011533029.2:c.173A>G | XP_011531331.1:p.Tyr58Cys | |
| XM_011533030.2:c.173A>G | XP_011531332.1:p.Tyr58Cys | |
| XR_001738891.1:n.677A>G | ||
| XR_939707.2:n.677A>G | ||
| NM_022437.3:c.161A>G MANE Select | NP_071882.1:p.Tyr54Cys | |
| NM_001357321.2:c.161A>G | NP_001344250.1:p.Tyr54Cys |