Linked Data
ClinVar Variation Id:
295848
dbSNP Id:
rs369731617
ExAC:
1:22192297 C / T
gnomAD v2:
1-22192297-C-T
gnomAD v3:
1-21865804-C-T
gnomAD v4:
1-21865804-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21865804C>T , CM000663.2:g.21865804C>T | GRCh38 |
| NC_000001.10:g.22192297C>T , CM000663.1:g.22192297C>T | GRCh37 |
| NC_000001.9:g.22064884C>T | NCBI36 |
| NG_016740.1:g.76454G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.4227G>A MANE Select | ENSP00000363827.3:p.Ala1409= | |
| ENST00000644714.1:c.621G>A | ENSP00000496473.1:p.Ala207= | |
| ENST00000374695.7:c.4227G>A | ENSP00000363827.3:p.Ala1409= | |
| NM_001291860.1:c.4230G>A | NP_001278789.1:p.Ala1410= | |
| NM_005529.6:c.4227G>A | NP_005520.4:p.Ala1409= | |
| XM_006710594.2:c.4773G>A | XP_006710657.1:p.Ala1591= | |
| XM_006710595.2:c.4725G>A | XP_006710658.1:p.Ala1575= | |
| XM_006710596.2:c.4704G>A | XP_006710659.1:p.Ala1568= | |
| XM_006710597.2:c.4227G>A | XP_006710660.1:p.Ala1409= | |
| XM_011541317.1:c.4776G>A | XP_011539619.1:p.Ala1592= | |
| XM_011541318.1:c.4776G>A | XP_011539620.1:p.Ala1592= | |
| XM_011541319.1:c.4776G>A | XP_011539621.1:p.Ala1592= | |
| XM_011541320.1:c.4776G>A | XP_011539622.1:p.Ala1592= | |
| XM_011541321.1:c.4281G>A | XP_011539623.1:p.Ala1427= | |
| XM_011541322.1:c.4776G>A | XP_011539624.1:p.Ala1592= | |
| XM_011541318.2:c.4776G>A | XP_011539620.1:p.Ala1592= | |
| XM_017001120.1:c.4422G>A | XP_016856609.1:p.Ala1474= | |
| XM_017001121.1:c.4371G>A | XP_016856610.1:p.Ala1457= | |
| XM_017001122.1:c.4368G>A | XP_016856611.1:p.Ala1456= | |
| NM_005529.7:c.4227G>A MANE Select | NP_005520.4:p.Ala1409= | |
| NM_001291860.2:c.4230G>A | NP_001278789.1:p.Ala1410= |