Linked Data
ClinVar Variation Id:
180376
ClinVar RCV Id:
RCV000157251
RCV000645215
RCV001124648
RCV001124649
RCV002408705
RCV001719986
RCV003149960
RCV003965172
dbSNP Id:
rs200327969
ExAC:
17:39914003 C / A
gnomAD v2:
17-39914003-C-A
gnomAD v3:
17-41757751-C-A
gnomAD v4:
17-41757751-C-A
PubMed:
PMID:20864495
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41757751C>A , CM000679.2:g.41757751C>A | GRCh38 |
| NC_000017.10:g.39914003C>A , CM000679.1:g.39914003C>A | GRCh37 |
| NC_000017.9:g.37167529C>A | NCBI36 |
| NG_009090.2:g.33962G>T , LRG_401:g.33962G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393931.8:c.1807G>T MANE Select | ENSP00000377508.3:p.Val603Leu | |
| ENST00000310706.9:c.1807G>T | ENSP00000311113.5:p.Val603Leu | |
| ENST00000393930.5:c.1807G>T | ENSP00000377507.1:p.Val603Leu | |
| ENST00000393931.7:c.1807G>T | ENSP00000377508.3:p.Val603Leu | |
| NM_002230.2:c.1807G>T , LRG_401t2:c.1807G>T | NP_002221.1:p.Val603Leu | |
| NM_021991.2:c.1807G>T , LRG_401t1:c.1807G>T | NP_068831.1:p.Val603Leu | |
| XM_006721873.1:c.1807G>T | XP_006721936.1:p.Val603Leu | |
| XM_006721874.1:c.1807G>T | XP_006721937.1:p.Val603Leu | |
| XM_006721875.1:c.1807G>T | XP_006721938.1:p.Val603Leu | |
| XM_006721878.1:c.1807G>T | XP_006721941.1:p.Val603Leu | |
| XM_011524753.1:c.1807G>T | XP_011523055.1:p.Val603Leu | |
| XM_011524754.1:c.1807G>T | XP_011523056.1:p.Val603Leu | |
| XM_011524755.1:c.1807G>T | XP_011523057.1:p.Val603Leu | |
| XM_011524756.1:c.1807G>T | XP_011523058.1:p.Val603Leu | |
| XM_011524757.1:c.1807G>T | XP_011523059.1:p.Val603Leu | |
| XM_011524758.1:c.1807G>T | XP_011523060.1:p.Val603Leu | |
| NM_001352773.1:c.1807G>T | NP_001339702.1:p.Val603Leu | |
| NM_001352774.1:c.1807G>T | NP_001339703.1:p.Val603Leu | |
| NM_001352775.1:c.1807G>T | NP_001339704.1:p.Val603Leu | |
| NM_001352776.1:c.1807G>T | NP_001339705.1:p.Val603Leu | |
| NM_001352777.1:c.1807G>T | NP_001339706.1:p.Val603Leu | |
| NM_002230.3:c.1807G>T | NP_002221.1:p.Val603Leu | |
| NM_021991.3:c.1807G>T | NP_068831.1:p.Val603Leu | |
| XM_006721874.3:c.1807G>T | XP_006721937.1:p.Val603Leu | |
| XM_011524753.2:c.1807G>T | XP_011523055.1:p.Val603Leu | |
| XM_017024588.2:c.1858G>T | XP_016880077.1:p.Val620Leu | |
| XM_017024590.1:c.1807G>T | XP_016880079.1:p.Val603Leu | |
| NM_002230.4:c.1807G>T MANE Select | NP_002221.1:p.Val603Leu | |
| NM_001352773.2:c.1807G>T | NP_001339702.1:p.Val603Leu | |
| NM_001352774.2:c.1807G>T | NP_001339703.1:p.Val603Leu | |
| NM_001352775.2:c.1807G>T | NP_001339704.1:p.Val603Leu | |
| NM_001352776.2:c.1807G>T | NP_001339705.1:p.Val603Leu | |
| NM_001352777.2:c.1807G>T | NP_001339706.1:p.Val603Leu | |
| NM_021991.4:c.1807G>T | NP_068831.1:p.Val603Leu |