Linked Data
ClinVar Variation Id:
297485
dbSNP Id:
rs886046368
gnomAD v2:
1-45974010-G-T
gnomAD v3:
1-45508338-G-T
gnomAD v4:
1-45508338-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45508338G>T , CM000663.2:g.45508338G>T | GRCh38 |
| NC_000001.10:g.45974010G>T , CM000663.1:g.45974010G>T | GRCh37 |
| NC_000001.9:g.45746597G>T | NCBI36 |
| NG_013378.1:g.13155G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.403G>T MANE Select | ENSP00000383840.4:p.Val135Leu | |
| ENST00000401061.8:c.403G>T | ENSP00000383840.4:p.Val135Leu | |
| ENST00000616135.1:c.232G>T | ENSP00000478859.1:p.Val78Leu | |
| NM_015506.2:c.403G>T | NP_056321.2:p.Val135Leu | |
| XM_005270724.3:c.208G>T | XP_005270781.1:p.Val70Leu | |
| XM_011541204.1:c.232G>T | XP_011539506.1:p.Val78Leu | |
| NM_001330540.1:c.232G>T | NP_001317469.1:p.Val78Leu | |
| XM_005270724.5:c.208G>T | XP_005270781.1:p.Val70Leu | |
| NM_015506.3:c.403G>T MANE Select | NP_056321.2:p.Val135Leu | |
| NM_001330540.2:c.232G>T | NP_001317469.1:p.Val78Leu |