Linked Data
ClinVar Variation Id:
13993
dbSNP Id:
rs104894452
gnomAD v3:
14-20475175-A-G
gnomAD v4:
14-20475175-A-G
PubMed:
PMID:8931706
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20475175A>G , CM000676.2:g.20475175A>G | GRCh38 |
| NC_000014.8:g.20943334A>G , CM000676.1:g.20943334A>G | GRCh37 |
| NC_000014.7:g.20013174A>G | NCBI36 |
| NG_009631.1:g.10793A>G , LRG_91:g.10793A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553591.2:c.692A>G | ENSP00000452421.2:p.Tyr231Cys | |
| ENST00000556293.6:n.2998A>G | ||
| ENST00000556754.2:n.3941A>G | ||
| ENST00000557229.6:n.1004A>G | ||
| ENST00000697613.1:c.575A>G | ENSP00000513359.1:p.Tyr192Cys | |
| ENST00000697614.1:c.338A>G | ENSP00000513360.1:p.Tyr113Cys | |
| ENST00000697615.1:n.1403A>G | ||
| ENST00000361505.10:c.575A>G MANE Select | ENSP00000354532.6:p.Tyr192Cys | |
| ENST00000361505.9:c.575A>G | ENSP00000354532.5:p.Tyr192Cys | |
| ENST00000554056.5:n.883A>G | ||
| ENST00000556754.1:n.1792A>G | ||
| NM_000270.3:c.575A>G , LRG_91t1:c.575A>G | NP_000261.2:p.Tyr192Cys | |
| NM_000270.4:c.575A>G MANE Select | NP_000261.2:p.Tyr192Cys |