Linked Data
ClinVar Variation Id:
159528
dbSNP Id:
rs3213696
ExAC:
17:2573652 C / T
gnomAD v2:
17-2573652-C-T
gnomAD v3:
17-2670358-C-T
gnomAD v4:
17-2670358-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2670358C>T , CM000679.2:g.2670358C>T | GRCh38 |
| NC_000017.10:g.2573652C>T , CM000679.1:g.2573652C>T | GRCh37 |
| NC_000017.9:g.2520402C>T | NCBI36 |
| NG_009799.1:g.81730C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397195.10:c.568+27C>T MANE Select | ENSP00000380378.4:n.568+27C>T | |
| ENST00000674608.1:c.622+27C>T | ENSP00000501976.1:n.622+27C>T | |
| ENST00000674717.1:c.373+27C>T | ENSP00000501931.1:n.373+27C>T | |
| ENST00000675202.1:c.568+27C>T | ENSP00000502843.1:n.568+27C>T | |
| ENST00000675331.1:c.568+27C>T | ENSP00000502031.1:n.568+27C>T | |
| ENST00000675390.1:c.568+27C>T | ENSP00000501969.1:n.568+27C>T | |
| ENST00000675430.1:n.795+27C>T | ||
| ENST00000675621.1:c.568+27C>T | ENSP00000502117.1:n.568+27C>T | |
| ENST00000675764.1:c.*522+27C>T | ENSP00000502242.1:n.*522+27C>T | |
| ENST00000676077.1:c.373+27C>T | ENSP00000502507.1:n.373+27C>T | |
| ENST00000676098.1:c.568+27C>T | ENSP00000502735.1:n.568+27C>T | |
| ENST00000676188.1:c.568+27C>T | ENSP00000502577.1:n.568+27C>T | |
| ENST00000676201.1:n.749C>T | ||
| ENST00000676353.1:c.373+27C>T | ENSP00000502737.1:n.373+27C>T | |
| ENST00000676456.1:n.700C>T | ||
| ENST00000397193.7:n.376+27C>T | ||
| ENST00000397195.9:c.568+27C>T | ENSP00000380378.4:n.568+27C>T | |
| ENST00000572915.6:n.536+27C>T | ||
| ENST00000574468.1:c.64+27C>T | ENSP00000460591.1:n.64+27C>T | |
| ENST00000574816.5:n.31-5956C>T | ||
| ENST00000609078.1:n.554C>T | ||
| NM_000430.3:c.568+27C>T | NP_000421.1:n.568+27C>T | |
| XM_011523901.1:c.622+27C>T | XP_011522203.1:n.622+27C>T | |
| XM_011523902.1:c.622+27C>T | XP_011522204.1:n.622+27C>T | |
| XM_011523903.1:c.622+27C>T | XP_011522205.1:n.622+27C>T | |
| XM_011523904.1:c.622+27C>T | XP_011522206.1:n.622+27C>T | |
| XM_011523901.2:c.622+27C>T | XP_011522203.1:n.622+27C>T | |
| XM_011523902.3:c.622+27C>T | XP_011522204.1:n.622+27C>T | |
| XM_011523903.2:c.622+27C>T | XP_011522205.1:n.622+27C>T | |
| XM_017024701.1:c.568+27C>T | XP_016880190.1:n.568+27C>T | |
| XM_017024702.2:c.373+27C>T | XP_016880191.1:n.373+27C>T | |
| NM_000430.4:c.568+27C>T MANE Select | NP_000421.1:n.568+27C>T |