Linked Data
ClinVar Variation Id:
295772
dbSNP Id:
rs139855779
ExAC:
1:22170681 G / A
gnomAD v2:
1-22170681-G-A
gnomAD v3:
1-21844188-G-A
gnomAD v4:
1-21844188-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21844188G>A , CM000663.2:g.21844188G>A | GRCh38 |
| NC_000001.10:g.22170681G>A , CM000663.1:g.22170681G>A | GRCh37 |
| NC_000001.9:g.22043268G>A | NCBI36 |
| NG_016740.1:g.98070C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.8576C>T MANE Select | ENSP00000363827.3:p.Thr2859Met | |
| ENST00000374695.7:c.8576C>T | ENSP00000363827.3:p.Thr2859Met | |
| NM_001291860.1:c.8579C>T | NP_001278789.1:p.Thr2860Met | |
| NM_005529.6:c.8576C>T | NP_005520.4:p.Thr2859Met | |
| XM_006710594.2:c.9122C>T | XP_006710657.1:p.Thr3041Met | |
| XM_006710595.2:c.9074C>T | XP_006710658.1:p.Thr3025Met | |
| XM_006710596.2:c.9053C>T | XP_006710659.1:p.Thr3018Met | |
| XM_006710597.2:c.8576C>T | XP_006710660.1:p.Thr2859Met | |
| XM_011541317.1:c.9125C>T | XP_011539619.1:p.Thr3042Met | |
| XM_011541318.1:c.9125C>T | XP_011539620.1:p.Thr3042Met | |
| XM_011541319.1:c.9125C>T | XP_011539621.1:p.Thr3042Met | |
| XM_011541320.1:c.8846C>T | XP_011539622.1:p.Thr2949Met | |
| XM_011541321.1:c.8630C>T | XP_011539623.1:p.Thr2877Met | |
| XM_011541318.2:c.9125C>T | XP_011539620.1:p.Thr3042Met | |
| XM_017001120.1:c.8771C>T | XP_016856609.1:p.Thr2924Met | |
| XM_017001121.1:c.8720C>T | XP_016856610.1:p.Thr2907Met | |
| XM_017001122.1:c.8717C>T | XP_016856611.1:p.Thr2906Met | |
| NM_005529.7:c.8576C>T MANE Select | NP_005520.4:p.Thr2859Met | |
| NM_001291860.2:c.8579C>T | NP_001278789.1:p.Thr2860Met |