Linked Data
ClinVar Variation Id:
407061
dbSNP Id:
rs570325845
ExAC:
1:161326469 G / T
gnomAD v2:
1-161326469-G-T
gnomAD v3:
1-161356679-G-T
gnomAD v4:
1-161356679-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161356679G>T , CM000663.2:g.161356679G>T | GRCh38 |
| NC_000001.10:g.161326469G>T , CM000663.1:g.161326469G>T | GRCh37 |
| NC_000001.9:g.159593093G>T | NCBI36 |
| NG_012767.1:g.47304G>T , LRG_317:g.47304G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470743.5:c.*245G>T | ENSP00000482902.2:n.*245G>T | |
| ENST00000367975.7:c.244G>T MANE Select | ENSP00000356953.3:p.Val82Phe | |
| ENST00000342751.8:c.242-5650G>T | ENSP00000356952.3:n.242-5650G>T | |
| ENST00000367975.6:c.244G>T | ENSP00000356953.2:p.Val82Phe | |
| ENST00000392169.6:c.85G>T | ENSP00000376009.2:p.Val29Phe | |
| ENST00000432287.6:c.142G>T | ENSP00000390558.2:p.Val48Phe | |
| ENST00000470743.4:c.342G>T | ||
| ENST00000504963.5:c.*67G>T | ENSP00000423929.1:n.*67G>T | |
| ENST00000513009.5:c.140-5650G>T | ENSP00000423260.1:n.140-5650G>T | |
| NM_001035511.1:c.242-5650G>T | NP_001030588.1:n.242-5650G>T | |
| NM_001035512.1:c.142G>T | NP_001030589.1:p.Val48Phe | |
| NM_001035513.1:c.85G>T | NP_001030590.1:p.Val29Phe | |
| NM_001278172.1:c.140-5650G>T | NP_001265101.1:n.140-5650G>T | |
| NM_003001.3:c.244G>T , LRG_317t1:c.244G>T | NP_002992.1:p.Val82Phe | |
| NR_103459.1:n.301G>T | ||
| NM_001035511.2:c.242-5650G>T | NP_001030588.1:n.242-5650G>T | |
| NM_001035512.2:c.142G>T | NP_001030589.1:p.Val48Phe | |
| NM_001035513.2:c.85G>T | NP_001030590.1:p.Val29Phe | |
| NM_001278172.2:c.140-5650G>T | NP_001265101.1:n.140-5650G>T | |
| NM_003001.5:c.244G>T MANE Select | NP_002992.1:p.Val82Phe | |
| NR_103459.2:n.296G>T |