Linked Data
ClinVar Variation Id:
727784
ClinVar RCV Id:
RCV000902176
dbSNP Id:
rs201535252
ExAC:
7:150883671 A / G
gnomAD v2:
7-150883671-A-G
gnomAD v3:
7-151186584-A-G
gnomAD v4:
7-151186584-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151186584A>G , CM000669.2:g.151186584A>G | GRCh38 |
| NC_000007.13:g.150883671A>G , CM000669.1:g.150883671A>G | GRCh37 |
| NC_000007.12:g.150514604A>G | NCBI36 |
| NG_017016.1:g.6249T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420175.3:c.392T>C MANE Select | ENSP00000391137.2:p.Val131Ala | |
| ENST00000275838.5:c.392T>C | ENSP00000275838.1:p.Val131Ala | |
| ENST00000377867.7:c.347T>C | ENSP00000367098.3:p.Val116Ala | |
| ENST00000420175.2:c.392T>C | ENSP00000391137.2:p.Val131Ala | |
| NM_001142459.1:c.392T>C | NP_001135931.2:p.Val131Ala | |
| NM_001142460.1:c.392T>C | NP_001135932.2:p.Val131Ala | |
| NM_080871.3:c.347T>C | NP_543147.2:p.Val116Ala | |
| XM_005249949.3:c.527T>C | XP_005250006.1:p.Val176Ala | |
| NM_001142459.2:c.392T>C MANE Select | NP_001135931.2:p.Val131Ala | |
| NM_080871.4:c.347T>C | NP_543147.2:p.Val116Ala |