Linked Data
ClinVar Variation Id:
358568
dbSNP Id:
rs750449027
ExAC:
7:107546806 T / C
gnomAD v2:
7-107546806-T-C
gnomAD v4:
7-107906361-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107906361T>C , CM000669.2:g.107906361T>C | GRCh38 |
| NC_000007.13:g.107546806T>C , CM000669.1:g.107546806T>C | GRCh37 |
| NC_000007.12:g.107334042T>C | NCBI36 |
| NG_008045.1:g.20221T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.677T>C MANE Select | ENSP00000205402.3:p.Val226Ala | |
| ENST00000205402.9:c.677T>C | ENSP00000205402.3:p.Val226Ala | |
| ENST00000415325.5:c.*351T>C | ENSP00000402593.1:n.*351T>C | |
| ENST00000417551.5:c.677T>C | ENSP00000390667.1:p.Val226Ala | |
| ENST00000437604.6:c.533T>C | ENSP00000387542.2:p.Val178Ala | |
| ENST00000440410.5:c.608T>C | ENSP00000417016.1:p.Val203Ala | |
| ENST00000451081.5:c.*420T>C | ENSP00000388077.1:n.*420T>C | |
| ENST00000489184.1:n.630T>C | ||
| NM_000108.4:c.677T>C | NP_000099.2:p.Val226Ala | |
| NM_001289750.1:c.380T>C | NP_001276679.1:p.Val127Ala | |
| NM_001289751.1:c.608T>C | NP_001276680.1:p.Val203Ala | |
| NM_001289752.1:c.533T>C | NP_001276681.1:p.Val178Ala | |
| NM_000108.5:c.677T>C MANE Select | NP_000099.2:p.Val226Ala |