Linked Data
ClinVar Variation Id:
1260049
ClinVar RCV Id:
RCV001666966
dbSNP Id:
rs62069862
ExAC:
17:3427442 A / G
gnomAD v2:
17-3427442-A-G
gnomAD v3:
17-3524148-A-G
gnomAD v4:
17-3524148-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3524148A>G , CM000679.2:g.3524148A>G | GRCh38 |
| NC_000017.10:g.3427442A>G , CM000679.1:g.3427442A>G | GRCh37 |
| NC_000017.9:g.3374192A>G | NCBI36 |
| NG_032144.2:g.38848T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000576742.6:c.1743+50T>C MANE Select | ENSP00000461518.2:n.1743+50T>C | |
| ENST00000301365.8:c.1743+50T>C | ENSP00000301365.4:n.1743+50T>C | |
| ENST00000381913.8:c.1005+50T>C | ||
| ENST00000571139.5:c.*1735+50T>C | ENSP00000458187.1:n.*1735+50T>C | |
| ENST00000572519.1:c.1743+50T>C | ENSP00000460215.1:n.1743+50T>C | |
| ENST00000573539.5:c.*1753+50T>C | ENSP00000458239.1:n.*1753+50T>C | |
| ENST00000576742.5:c.1743+50T>C | ENSP00000461518.1:n.1743+50T>C | |
| ENST00000577016.5:c.328+2706T>C | ||
| ENST00000616411.4:c.1695+50T>C | ENSP00000483947.1:n.1695+50T>C | |
| NM_001258205.1:c.1743+50T>C | NP_001245134.1:n.1743+50T>C | |
| NM_145068.3:c.1743+50T>C | NP_659505.1:n.1743+50T>C | |
| XM_011523693.1:c.1577+2706T>C | XP_011521995.1:n.1577+2706T>C | |
| XM_011523694.1:c.1038+50T>C | XP_011521996.1:n.1038+50T>C | |
| XM_011523695.1:c.696+50T>C | XP_011521997.1:n.696+50T>C | |
| XR_934004.1:n.1817+50T>C | ||
| NM_001258205.2:c.1743+50T>C | NP_001245134.1:n.1743+50T>C | |
| NM_145068.4:c.1743+50T>C MANE Select | NP_659505.1:n.1743+50T>C |