Linked Data
ClinVar Variation Id:
1223792
ClinVar RCV Id:
RCV001596586
dbSNP Id:
rs201041043
gnomAD v3:
17-35834516-T-C
gnomAD v4:
17-35834516-T-C
MyVariant Identifiers:
chr17:g.35834516T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35834516T>C , CM000679.2:g.35834516T>C | GRCh38 |
| NC_000017.9:g.31185633T>C | NCBI36 |
| NG_023279.1:g.30033T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000603067.6:n.3071T>C | ||
| ENST00000603393.6:c.606-50T>C | ENSP00000474653.2:n.606-50T>C | |
| ENST00000603777.6:c.*139-50T>C | ENSP00000474522.2:n.*139-50T>C | |
| ENST00000604694.2:c.606-50T>C | ENSP00000475147.2:n.606-50T>C | |
| ENST00000685897.1:n.732-50T>C | ||
| ENST00000689923.1:n.898-50T>C | ||
| ENST00000605844.6:c.641-50T>C MANE Select | ENSP00000474096.1:n.641-50T>C | |
| ENST00000603067.5:n.258T>C | ||
| ENST00000603346.1:n.419-50T>C | ||
| ENST00000603393.5:c.333-50T>C | ENSP00000474653.1:n.333-50T>C | |
| ENST00000603777.5:c.368-50T>C | ENSP00000474522.1:n.368-50T>C | |
| ENST00000604841.5:c.632-50T>C | ENSP00000474609.1:n.632-50T>C | |
| ENST00000604879.5:c.632-50T>C | ENSP00000475044.1:n.632-50T>C | |
| ENST00000605844.5:c.641-50T>C | ENSP00000474096.1:n.641-50T>C | |
| NM_003487.3:c.632-50T>C | NP_003478.1:n.632-50T>C | |
| NM_139215.2:c.641-50T>C | NP_631961.1:n.641-50T>C | |
| XM_011525314.1:c.641-50T>C | XP_011523616.1:n.641-50T>C | |
| XM_011525315.1:c.368-50T>C | XP_011523617.1:n.368-50T>C | |
| XM_024450959.1:c.-167-50T>C | XP_024306727.1:n.-167-50T>C | |
| NM_139215.3:c.641-50T>C MANE Select | NP_631961.1:n.641-50T>C | |
| NM_003487.4:c.632-50T>C | NP_003478.1:n.632-50T>C |