Linked Data
ClinVar Variation Id:
403396
dbSNP Id:
rs2269350
ExAC:
3:39453160 G / A
gnomAD v2:
3-39453160-G-A
gnomAD v3:
3-39411669-G-A
gnomAD v4:
3-39411669-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39411669G>A , CM000665.2:g.39411669G>A | GRCh38 |
| NC_000003.11:g.39453160G>A , CM000665.1:g.39453160G>A | GRCh37 |
| NC_000003.10:g.39428164G>A | NCBI36 |
| NG_033234.1:g.9957G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458478.6:c.519G>A | ENSP00000410848.2:p.Leu173= | |
| ENST00000478027.3:n.1069G>A | ||
| ENST00000495394.2:n.2459G>A | ||
| ENST00000697728.1:c.519G>A | ENSP00000513422.1:p.Leu173= | |
| ENST00000697729.1:c.519G>A | ENSP00000513423.1:p.Leu173= | |
| ENST00000697730.1:c.519G>A | ENSP00000513424.1:p.Leu173= | |
| ENST00000697731.1:c.519G>A | ENSP00000513425.1:p.Leu173= | |
| ENST00000697732.1:n.1156G>A | ||
| ENST00000697733.1:n.1804G>A | ||
| ENST00000697734.1:n.2452G>A | ||
| ENST00000697735.1:n.1802G>A | ||
| ENST00000697753.1:c.519G>A | ENSP00000513432.1:p.Leu173= | |
| ENST00000697754.1:c.218G>A | ||
| ENST00000697816.1:c.*416G>A | ENSP00000513451.1:n.*416G>A | |
| ENST00000301821.11:c.519G>A MANE Select | ENSP00000346067.4:p.Leu173= | |
| ENST00000301821.10:c.519G>A | ENSP00000346067.4:p.Leu173= | |
| ENST00000443003.2:c.534G>A | ENSP00000389351.1:p.Leu178= | |
| ENST00000458478.5:c.519G>A | ENSP00000410848.1:p.Leu173= | |
| ENST00000478027.2:n.788G>A | ||
| ENST00000495394.1:n.1411G>A | ||
| NM_001304288.1:c.534G>A | NP_001291217.1:p.Leu178= | |
| NM_002295.5:c.519G>A | NP_002286.2:p.Leu173= | |
| NM_002295.6:c.519G>A MANE Select | NP_002286.2:p.Leu173= | |
| NM_001304288.2:c.534G>A | NP_001291217.1:p.Leu178= |