Linked Data
dbSNP Id:
rs1400133002
gnomAD v4:
17-3524249-G-A
MyVariant Identifiers:
chr17:g.3427543G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3524249G>A , CM000679.2:g.3524249G>A | GRCh38 |
| NC_000017.10:g.3427543G>A , CM000679.1:g.3427543G>A | GRCh37 |
| NC_000017.9:g.3374293G>A | NCBI36 |
| NG_032144.2:g.38747C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576742.6:c.1692C>T MANE Select | ENSP00000461518.2:p.Tyr564= | |
| ENST00000301365.8:c.1692C>T | ENSP00000301365.4:p.Tyr564= | |
| ENST00000381913.8:c.954C>T | ||
| ENST00000571139.5:c.*1684C>T | ENSP00000458187.1:n.*1684C>T | |
| ENST00000572519.1:c.1692C>T | ENSP00000460215.1:p.Tyr564= | |
| ENST00000573539.5:c.*1702C>T | ENSP00000458239.1:n.*1702C>T | |
| ENST00000576742.5:c.1692C>T | ENSP00000461518.1:p.Tyr564= | |
| ENST00000577016.5:c.328+2605C>T | ||
| ENST00000616411.4:c.1644C>T | ENSP00000483947.1:p.Tyr548= | |
| NM_001258205.1:c.1692C>T | NP_001245134.1:p.Tyr564= | |
| NM_145068.3:c.1692C>T | NP_659505.1:p.Tyr564= | |
| XM_011523693.1:c.1577+2605C>T | XP_011521995.1:n.1577+2605C>T | |
| XM_011523694.1:c.987C>T | XP_011521996.1:p.Tyr329= | |
| XM_011523695.1:c.645C>T | XP_011521997.1:p.Tyr215= | |
| XR_934004.1:n.1766C>T | ||
| NM_001258205.2:c.1692C>T | NP_001245134.1:p.Tyr564= | |
| NM_145068.4:c.1692C>T MANE Select | NP_659505.1:p.Tyr564= |