Linked Data
ClinVar Variation Id:
39792
dbSNP Id:
rs397514594
gnomAD v2:
16-23546667-C-T
gnomAD v3:
16-23535346-C-T
gnomAD v4:
16-23535346-C-T
PubMed:
PMID:22492562
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23535346C>T , CM000678.2:g.23535346C>T | GRCh38 |
| NC_000016.9:g.23546667C>T , CM000678.1:g.23546667C>T | GRCh37 |
| NC_000016.8:g.23454168C>T | NCBI36 |
| NG_027752.1:g.27030G>A | |
| NG_027752.2:g.27030G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449606.7:c.500G>A MANE Select | ENSP00000395196.2:p.Cys167Tyr | |
| ENST00000674054.1:c.500G>A | ENSP00000501251.1:p.Cys167Tyr | |
| ENST00000449606.5:c.500G>A | ENSP00000395196.1:p.Cys167Tyr | |
| ENST00000562402.1:n.104G>A | ||
| ENST00000563232.1:c.500G>A | ENSP00000456218.1:p.Cys167Tyr | |
| ENST00000563459.5:c.500G>A | ENSP00000456467.1:p.Cys167Tyr | |
| ENST00000564501.5:c.500G>A | ENSP00000457107.1:p.Cys167Tyr | |
| ENST00000564668.5:c.*280G>A | ENSP00000455789.1:n.*280G>A | |
| ENST00000564987.1:n.124G>A | ||
| ENST00000566017.5:n.467G>A | ||
| NM_001083614.1:c.500G>A | NP_001077083.1:p.Cys167Tyr | |
| NM_001308211.1:c.500G>A | NP_001295140.1:p.Cys167Tyr | |
| NR_003501.1:n.532G>A | ||
| XM_011545738.1:c.428G>A | XP_011544040.1:p.Cys143Tyr | |
| XM_011545739.1:c.221G>A | XP_011544041.1:p.Cys74Tyr | |
| XR_001751841.1:n.822G>A | ||
| NM_001083614.2:c.500G>A MANE Select | NP_001077083.1:p.Cys167Tyr | |
| NR_003501.2:n.507G>A |