Linked Data
ClinVar Variation Id:
235833
ClinVar RCV Id:
RCV000224757
dbSNP Id:
rs878853130
PubMed:
PMID:25683120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101103212A>G , CM000675.2:g.101103212A>G | GRCh38 |
| NC_000013.10:g.101755563A>G , CM000675.1:g.101755563A>G | GRCh37 |
| NC_000013.9:g.100553564A>G | NCBI36 |
| NG_053176.1:g.318995T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251127.11:c.3017T>C MANE Select | ENSP00000251127.6:p.Val1006Ala | |
| ENST00000648359.1:c.3017T>C | ENSP00000497465.1:p.Val1006Ala | |
| ENST00000675150.1:c.2738T>C | ENSP00000502680.1:p.Val913Ala | |
| ENST00000675332.1:c.3104T>C | ENSP00000501955.1:p.Val1035Ala | |
| ENST00000676315.1:c.2930T>C | ENSP00000501603.1:p.Val977Ala | |
| ENST00000251127.10:c.3017T>C | ENSP00000251127.6:p.Val1006Ala | |
| NM_052867.2:c.3017T>C | NP_443099.1:p.Val1006Ala | |
| XM_011521067.1:c.3074T>C | XP_011519369.1:p.Val1025Ala | |
| XM_011521068.1:c.3017T>C | XP_011519370.1:p.Val1006Ala | |
| XM_011521069.1:c.2987T>C | XP_011519371.1:p.Val996Ala | |
| XM_011521070.1:c.2795T>C | XP_011519372.1:p.Val932Ala | |
| NM_001350748.1:c.3104T>C | NP_001337677.1:p.Val1035Ala | |
| NM_001350749.1:c.3017T>C | NP_001337678.1:p.Val1006Ala | |
| NM_001350750.1:c.2930T>C | NP_001337679.1:p.Val977Ala | |
| NM_001350751.1:c.2930T>C | NP_001337680.1:p.Val977Ala | |
| NM_052867.3:c.3017T>C | NP_443099.1:p.Val1006Ala | |
| XM_011521067.2:c.3074T>C | XP_011519369.1:p.Val1025Ala | |
| XM_011521069.2:c.2987T>C | XP_011519371.1:p.Val996Ala | |
| XM_017020536.2:c.2570T>C | XP_016876025.1:p.Val857Ala | |
| XM_017020537.1:c.2252T>C | XP_016876026.1:p.Val751Ala | |
| XM_024449336.1:c.3161T>C | XP_024305104.1:p.Val1054Ala | |
| NM_052867.4:c.3017T>C MANE Select | NP_443099.1:p.Val1006Ala | |
| NM_001350748.2:c.3104T>C | NP_001337677.1:p.Val1035Ala | |
| NM_001350749.2:c.3017T>C | NP_001337678.1:p.Val1006Ala | |
| NM_001350750.2:c.2930T>C | NP_001337679.1:p.Val977Ala | |
| NM_001350751.2:c.2930T>C | NP_001337680.1:p.Val977Ala |