Linked Data
ClinVar Variation Id:
475252
dbSNP Id:
rs149451729
ExAC:
2:32463365 C / A
gnomAD v2:
2-32463365-C-A
gnomAD v3:
2-32238296-C-A
gnomAD v4:
2-32238296-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32238296C>A , CM000664.2:g.32238296C>A | GRCh38 |
| NC_000002.11:g.32463365C>A , CM000664.1:g.32463365C>A | GRCh37 |
| NC_000002.10:g.32316869C>A | NCBI36 |
| NG_041780.1:g.32448G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652197.2:c.50G>T | ENSP00000498301.2:p.Gly17Val | |
| ENST00000402280.6:c.2357G>T MANE Select | ENSP00000385428.1:p.Gly786Val | |
| ENST00000404025.3:c.*63G>T | ENSP00000385090.3:n.*63G>T | |
| ENST00000652197.1:c.*87G>T | ENSP00000498301.1:n.*87G>T | |
| ENST00000342905.10:c.362G>T | ENSP00000339666.6:p.Gly121Val | |
| ENST00000360906.9:c.2357G>T | ENSP00000354159.5:p.Gly786Val | |
| ENST00000402280.5:c.2357G>T | ENSP00000385428.1:p.Gly786Val | |
| ENST00000404025.2:c.2357G>T | ENSP00000385090.2:p.Gly786Val | |
| NM_001199138.1:c.2357G>T | NP_001186067.1:p.Gly786Val | |
| NM_001199139.1:c.2357G>T | NP_001186068.1:p.Gly786Val | |
| NM_001302504.1:c.362G>T | NP_001289433.1:p.Gly121Val | |
| NM_021209.4:c.2357G>T | NP_067032.3:p.Gly786Val | |
| XR_001738872.1:n.2623G>T | ||
| NM_001199138.2:c.2357G>T MANE Select | NP_001186067.1:p.Gly786Val |