Linked Data
dbSNP Id:
rs768651179
ExAC:
17:3427569 C / T
gnomAD v2:
17-3427569-C-T
gnomAD v3:
17-3524275-C-T
gnomAD v4:
17-3524275-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3524275C>T , CM000679.2:g.3524275C>T | GRCh38 |
| NC_000017.10:g.3427569C>T , CM000679.1:g.3427569C>T | GRCh37 |
| NC_000017.9:g.3374319C>T | NCBI36 |
| NG_032144.2:g.38721G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576742.6:c.1666G>A MANE Select | ENSP00000461518.2:p.Ala556Thr | |
| ENST00000301365.8:c.1666G>A | ENSP00000301365.4:p.Ala556Thr | |
| ENST00000381913.8:c.928G>A | ||
| ENST00000571139.5:c.*1658G>A | ENSP00000458187.1:n.*1658G>A | |
| ENST00000572519.1:c.1666G>A | ENSP00000460215.1:p.Ala556Thr | |
| ENST00000573539.5:c.*1676G>A | ENSP00000458239.1:n.*1676G>A | |
| ENST00000576742.5:c.1666G>A | ENSP00000461518.1:p.Ala556Thr | |
| ENST00000577016.5:c.328+2579G>A | ||
| ENST00000616411.4:c.1618G>A | ENSP00000483947.1:p.Ala540Thr | |
| NM_001258205.1:c.1666G>A | NP_001245134.1:p.Ala556Thr | |
| NM_145068.3:c.1666G>A | NP_659505.1:p.Ala556Thr | |
| XM_011523693.1:c.1577+2579G>A | XP_011521995.1:n.1577+2579G>A | |
| XM_011523694.1:c.961G>A | XP_011521996.1:p.Ala321Thr | |
| XM_011523695.1:c.619G>A | XP_011521997.1:p.Ala207Thr | |
| XR_934004.1:n.1740G>A | ||
| NM_001258205.2:c.1666G>A | NP_001245134.1:p.Ala556Thr | |
| NM_145068.4:c.1666G>A MANE Select | NP_659505.1:p.Ala556Thr |