Linked Data
ClinVar Variation Id:
2168012
ClinVar RCV Id:
RCV003100244
dbSNP Id:
rs142829414
ExAC:
17:3427540 A / G
gnomAD v2:
17-3427540-A-G
gnomAD v3:
17-3524246-A-G
gnomAD v4:
17-3524246-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3524246A>G , CM000679.2:g.3524246A>G | GRCh38 |
| NC_000017.10:g.3427540A>G , CM000679.1:g.3427540A>G | GRCh37 |
| NC_000017.9:g.3374290A>G | NCBI36 |
| NG_032144.2:g.38750T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576742.6:c.1695T>C MANE Select | ENSP00000461518.2:p.Tyr565= | |
| ENST00000301365.8:c.1695T>C | ENSP00000301365.4:p.Tyr565= | |
| ENST00000381913.8:c.957T>C | ||
| ENST00000571139.5:c.*1687T>C | ENSP00000458187.1:n.*1687T>C | |
| ENST00000572519.1:c.1695T>C | ENSP00000460215.1:p.Tyr565= | |
| ENST00000573539.5:c.*1705T>C | ENSP00000458239.1:n.*1705T>C | |
| ENST00000576742.5:c.1695T>C | ENSP00000461518.1:p.Tyr565= | |
| ENST00000577016.5:c.328+2608T>C | ||
| ENST00000616411.4:c.1647T>C | ENSP00000483947.1:p.Tyr549= | |
| NM_001258205.1:c.1695T>C | NP_001245134.1:p.Tyr565= | |
| NM_145068.3:c.1695T>C | NP_659505.1:p.Tyr565= | |
| XM_011523693.1:c.1577+2608T>C | XP_011521995.1:n.1577+2608T>C | |
| XM_011523694.1:c.990T>C | XP_011521996.1:p.Tyr330= | |
| XM_011523695.1:c.648T>C | XP_011521997.1:p.Tyr216= | |
| XR_934004.1:n.1769T>C | ||
| NM_001258205.2:c.1695T>C | NP_001245134.1:p.Tyr565= | |
| NM_145068.4:c.1695T>C MANE Select | NP_659505.1:p.Tyr565= |