Linked Data
ClinVar Variation Id:
3117212
ClinVar RCV Id:
RCV004407044
dbSNP Id:
rs752277959
ExAC:
2:143718260 T / C
gnomAD v2:
2-143718260-T-C
gnomAD v3:
2-142960691-T-C
gnomAD v4:
2-142960691-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.142960691T>C , CM000664.2:g.142960691T>C | GRCh38 |
| NC_000002.11:g.143718260T>C , CM000664.1:g.143718260T>C | GRCh37 |
| NC_000002.10:g.143434730T>C | NCBI36 |
| NG_023254.1:g.88066T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264170.9:c.650T>C MANE Select | ENSP00000264170.4:p.Val217Ala | |
| ENST00000264170.8:c.650T>C | ENSP00000264170.4:p.Val217Ala | |
| ENST00000375773.6:c.650T>C | ENSP00000364928.2:p.Val217Ala | |
| ENST00000409512.5:c.650T>C | ENSP00000386731.1:p.Val217Ala | |
| ENST00000612147.4:c.411T>C | ||
| ENST00000613664.1:c.360T>C | ||
| ENST00000621320.4:c.623T>C | ENSP00000484801.1:p.Val208Ala | |
| NM_001032998.1:c.650T>C | NP_001028170.1:p.Val217Ala | |
| NM_001199241.1:c.650T>C | NP_001186170.1:p.Val217Ala | |
| NM_003937.2:c.650T>C | NP_003928.1:p.Val217Ala | |
| XM_011512101.1:c.650T>C | XP_011510403.1:p.Val217Ala | |
| XM_011512102.1:c.251T>C | XP_011510404.1:p.Val84Ala | |
| XM_011512103.1:c.251T>C | XP_011510405.1:p.Val84Ala | |
| XM_011512104.1:c.251T>C | XP_011510406.1:p.Val84Ala | |
| XM_011512105.1:c.251T>C | XP_011510407.1:p.Val84Ala | |
| XR_923058.1:n.742T>C | ||
| XM_011512102.2:c.251T>C | XP_011510404.1:p.Val84Ala | |
| XM_017005217.1:c.650T>C | XP_016860706.1:p.Val217Ala | |
| XM_024453208.1:c.650T>C | XP_024308976.1:p.Val217Ala | |
| NM_003937.3:c.650T>C MANE Select | NP_003928.1:p.Val217Ala | |
| NM_001032998.2:c.650T>C | NP_001028170.1:p.Val217Ala | |
| NM_001199241.2:c.650T>C | NP_001186170.1:p.Val217Ala |