Linked Data
ClinVar Variation Id:
18438
dbSNP Id:
rs267607134
ExAC:
9:132581031 A / T
gnomAD v2:
9-132581031-A-T
gnomAD v3:
9-129818752-A-T
gnomAD v4:
9-129818752-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818752A>T , CM000671.2:g.129818752A>T | GRCh38 |
| NC_000009.11:g.132581031A>T , CM000671.1:g.132581031A>T | GRCh37 |
| NC_000009.10:g.131620852A>T | NCBI36 |
| NG_008049.1:g.10411T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.613T>A MANE Select | ENSP00000345719.4:p.Phe205Ile | |
| ENST00000651202.1:c.709T>A | ENSP00000498222.1:p.Phe237Ile | |
| ENST00000351698.4:c.613T>A | ENSP00000345719.4:p.Phe205Ile | |
| ENST00000473604.2:n.723T>A | ||
| ENST00000474192.1:n.30T>A | ||
| NM_000113.2:c.613T>A | NP_000104.1:p.Phe205Ile | |
| XR_929731.1:n.773T>A | ||
| XR_929731.3:n.641T>A | ||
| NM_000113.3:c.613T>A MANE Select | NP_000104.1:p.Phe205Ile |