Linked Data
ClinVar Variation Id:
593629
ClinVar RCV Id:
RCV000728726
dbSNP Id:
rs535914789
ExAC:
17:8024877 A / C
gnomAD v2:
17-8024877-A-C
gnomAD v3:
17-8121559-A-C
gnomAD v4:
17-8121559-A-C
MyVariant Identifiers:
chr17:g.8024877A>C (hg19)
chr17:g.8024877_8024878delinsCC (hg19)
chr17:g.8121559A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8121559A>C , CM000679.2:g.8121559A>C | GRCh38 |
| NC_000017.10:g.8024877A>C , CM000679.1:g.8024877A>C | GRCh37 |
| NC_000017.9:g.7965602A>C | NCBI36 |
| NG_015807.1:g.2358T>G | |
| NG_015816.1:g.7534T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.*12T>G MANE Select | ENSP00000446205.2:n.*12T>G | |
| ENST00000541682.6:c.705T>G | ENSP00000446205.2:n.705T>G | |
| NM_001165967.1:c.*12T>G | NP_001159439.1:n.*12T>G | |
| NM_032580.3:c.*12T>G | NP_115969.2:n.*12T>G | |
| XM_011524038.1:c.*12T>G | XP_011522340.1:n.*12T>G | |
| XM_011524039.1:c.*12T>G | XP_011522341.1:n.*12T>G | |
| XM_011524040.1:c.*12T>G | XP_011522342.1:n.*12T>G | |
| XM_011524041.1:c.*12T>G | XP_011522343.1:n.*12T>G | |
| XM_011524042.1:c.*12T>G | XP_011522344.1:n.*12T>G | |
| XR_934203.1:n.69+1745A>C | ||
| XM_017025232.1:c.*12T>G | XP_016880721.1:n.*12T>G | |
| XM_024451007.1:c.*12T>G | XP_024306775.1:n.*12T>G | |
| NM_001165967.2:c.*12T>G MANE Select | NP_001159439.1:n.*12T>G | |
| NM_032580.4:c.*12T>G | NP_115969.2:n.*12T>G |