Linked Data
ClinVar Variation Id:
2964131
ClinVar RCV Id:
RCV003820233
dbSNP Id:
rs763266745
ExAC:
6:43492665 A / G
gnomAD v2:
6-43492665-A-G
gnomAD v4:
6-43524927-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43524927A>G , CM000668.2:g.43524927A>G | GRCh38 |
| NC_000006.11:g.43492665A>G , CM000668.1:g.43492665A>G | GRCh37 |
| NC_000006.10:g.43600643A>G | NCBI36 |
| NG_028283.3:g.20226A>G | |
| NG_051658.1:g.56149T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265351.12:c.3216T>C (XPO5) MANE Select | ENSP00000265351.7:p.Leu1072= | |
| ENST00000607635.2:c.922+3879A>G (POLR1C) | ENSP00000496683.1:n.922+3879A>G | |
| ENST00000643341.1:c.922+3879A>G (POLR1C) | ENSP00000496018.1:n.922+3879A>G | |
| ENST00000643799.1:c.*17+3610A>G (POLR1C) | ENSP00000494529.1:n.*17+3610A>G | |
| ENST00000646433.1:c.922+3879A>G (POLR1C) | ENSP00000494368.1:n.922+3879A>G | |
| ENST00000646700.1:c.922+3879A>G (POLR1C) | ENSP00000495521.1:n.922+3879A>G | |
| ENST00000265351.11:c.3216T>C (XPO5) | ENSP00000265351.7:p.Leu1072= | |
| ENST00000304004.7:c.922+3879A>G (POLR1C) | ENSP00000307212.3:n.922+3879A>G | |
| ENST00000455285.2:c.560T>C (XPO5) | ||
| ENST00000455854.2:n.1699T>C (XPO5) | ||
| ENST00000486936.2:c.403T>C (XPO5) | ||
| ENST00000488195.6:n.613T>C (XPO5) | ||
| NM_020750.2:c.3216T>C (XPO5) | NP_065801.1:p.Leu1072= | |
| XM_005249491.1:c.922+3879A>G (POLR1C) | XP_005249548.1:n.922+3879A>G | |
| XM_011515000.1:c.922+3879A>G (POLR1C) | XP_011513302.1:n.922+3879A>G | |
| NM_001318876.1:c.922+3879A>G (POLR1C) | NP_001305805.1:n.922+3879A>G | |
| NM_001363658.1:c.922+3879A>G (POLR1C) | NP_001350587.1:n.922+3879A>G | |
| NR_144392.1:n.3565T>C (XPO5) | ||
| NM_020750.3:c.3216T>C (XPO5) MANE Select | NP_065801.1:p.Leu1072= | |
| NM_001363658.2:c.922+3879A>G (POLR1C) | NP_001350587.1:n.922+3879A>G | |
| NM_001318876.2:c.922+3879A>G (POLR1C) | NP_001305805.1:n.922+3879A>G | |
| NR_144392.2:n.3528T>C (XPO5) |