Linked Data
ClinVar Variation Id:
488487
dbSNP Id:
rs1163170578
gnomAD v2:
9-131094466-T-G
gnomAD v4:
9-128332187-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128332187T>G , CM000671.2:g.128332187T>G | GRCh38 |
| NC_000009.11:g.131094466T>G , CM000671.1:g.131094466T>G | GRCh37 |
| NC_000009.10:g.130134287T>G | NCBI36 |
| NG_042101.1:g.14680T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300452.8:c.437T>G MANE Select | ENSP00000300452.3:p.Phe146Cys | |
| ENST00000300452.7:c.437T>G | ENSP00000300452.3:p.Phe146Cys | |
| ENST00000461102.1:n.1776T>G | ||
| NM_001305942.1:c.*3-1287T>G | NP_001292871.1:n.*3-1287T>G | |
| NM_016035.3:c.437T>G | NP_057119.2:p.Phe146Cys | |
| NM_016035.4:c.437T>G | NP_057119.2:p.Phe146Cys | |
| XR_929805.1:n.749-663T>G | ||
| XM_017014792.1:c.*3-663T>G | XP_016870281.1:n.*3-663T>G | |
| XR_001746316.2:n.690T>G | ||
| XR_929805.3:n.749-663T>G | ||
| NM_016035.5:c.437T>G MANE Select | NP_057119.3:p.Phe146Cys | |
| NM_001305942.2:c.*3-1287T>G | NP_001292871.2:n.*3-1287T>G |