Linked Data
ClinVar Variation Id:
1569366
ClinVar RCV Id:
RCV002220625
dbSNP Id:
rs181621078
ExAC:
16:3713413 G / A
gnomAD v2:
16-3713413-G-A
gnomAD v3:
16-3663412-G-A
gnomAD v4:
16-3663412-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3663412G>A , CM000678.2:g.3663412G>A | GRCh38 |
| NC_000016.9:g.3713413G>A , CM000678.1:g.3713413G>A | GRCh37 |
| NC_000016.8:g.3653414G>A | NCBI36 |
| NG_033088.1:g.59186C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246957.10:c.1708+12C>T (TRAP1) MANE Select | ENSP00000246957.5:n.1708+12C>T | |
| ENST00000246957.9:c.1708+12C>T (TRAP1) | ENSP00000246957.5:n.1708+12C>T | |
| ENST00000407479.5:c.*5459G>A (DNASE1) | ENSP00000385905.1:n.*5459G>A | |
| ENST00000538171.5:c.1549+12C>T (TRAP1) | ENSP00000442070.1:n.1549+12C>T | |
| ENST00000571460.5:c.*576-75G>A (DNASE1) | ENSP00000459850.1:n.*576-75G>A | |
| ENST00000575479.1:c.218+5545G>A (DNASE1) | ||
| ENST00000575671.5:c.1081+12C>T (TRAP1) | ENSP00000458166.1:n.1081+12C>T | |
| NM_001272049.1:c.1549+12C>T (TRAP1) | NP_001258978.1:n.1549+12C>T | |
| NM_016292.2:c.1708+12C>T (TRAP1) | NP_057376.2:n.1708+12C>T | |
| XM_011522345.1:c.1288+12C>T (TRAP1) | XP_011520647.1:n.1288+12C>T | |
| XM_011522345.2:c.1288+12C>T (TRAP1) | XP_011520647.1:n.1288+12C>T | |
| XM_017022992.1:c.*653G>A (DNASE1) | XP_016878481.1:n.*653G>A | |
| XM_017022993.1:c.*653G>A (DNASE1) | XP_016878482.1:n.*653G>A | |
| XM_017023000.2:c.*653G>A (DNASE1) | XP_016878489.1:n.*653G>A | |
| XM_017023001.1:c.*653G>A (DNASE1) | XP_016878490.1:n.*653G>A | |
| XM_017023002.2:c.*653G>A (DNASE1) | XP_016878491.1:n.*653G>A | |
| XM_017023003.2:c.*653G>A (DNASE1) | XP_016878492.1:n.*653G>A | |
| XM_017023004.1:c.*653G>A (DNASE1) | XP_016878493.1:n.*653G>A | |
| XM_017023005.1:c.*653G>A (DNASE1) | XP_016878494.1:n.*653G>A | |
| XM_017023006.1:c.*653G>A (DNASE1) | XP_016878495.1:n.*653G>A | |
| XM_024450169.1:c.*653G>A (DNASE1) | XP_024305937.1:n.*653G>A | |
| NM_016292.3:c.1708+12C>T (TRAP1) MANE Select | NP_057376.2:n.1708+12C>T | |
| NM_001272049.2:c.1549+12C>T (TRAP1) | NP_001258978.1:n.1549+12C>T | |
| NM_001387140.1:c.*788G>A (DNASE1) | NP_001374069.1:n.*788G>A |