Linked Data
ClinVar Variation Id:
295855
dbSNP Id:
rs202214491
ExAC:
1:22200453 C / T
gnomAD v2:
1-22200453-C-T
gnomAD v3:
1-21873960-C-T
gnomAD v4:
1-21873960-C-T
COSMIC:
COSM51130
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21873960C>T , CM000663.2:g.21873960C>T | GRCh38 |
| NC_000001.10:g.22200453C>T , CM000663.1:g.22200453C>T | GRCh37 |
| NC_000001.9:g.22073040C>T | NCBI36 |
| NG_016740.1:g.68298G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.3708G>A MANE Select | ENSP00000363827.3:p.Ala1236= | |
| ENST00000374695.7:c.3708G>A | ENSP00000363827.3:p.Ala1236= | |
| ENST00000427897.1:c.271G>A | ||
| NM_001291860.1:c.3711G>A | NP_001278789.1:p.Ala1237= | |
| NM_005529.6:c.3708G>A | NP_005520.4:p.Ala1236= | |
| XM_006710594.2:c.3759G>A | XP_006710657.1:p.Ala1253= | |
| XM_006710595.2:c.3711G>A | XP_006710658.1:p.Ala1237= | |
| XM_006710596.2:c.3762G>A | XP_006710659.1:p.Ala1254= | |
| XM_006710597.2:c.3708G>A | XP_006710660.1:p.Ala1236= | |
| XM_011541317.1:c.3762G>A | XP_011539619.1:p.Ala1254= | |
| XM_011541318.1:c.3762G>A | XP_011539620.1:p.Ala1254= | |
| XM_011541319.1:c.3762G>A | XP_011539621.1:p.Ala1254= | |
| XM_011541320.1:c.3762G>A | XP_011539622.1:p.Ala1254= | |
| XM_011541321.1:c.3762G>A | XP_011539623.1:p.Ala1254= | |
| XM_011541322.1:c.3762G>A | XP_011539624.1:p.Ala1254= | |
| XM_011541318.2:c.3762G>A | XP_011539620.1:p.Ala1254= | |
| XM_017001120.1:c.3903G>A | XP_016856609.1:p.Ala1301= | |
| XM_017001121.1:c.3852G>A | XP_016856610.1:p.Ala1284= | |
| XM_017001122.1:c.3849G>A | XP_016856611.1:p.Ala1283= | |
| NM_005529.7:c.3708G>A MANE Select | NP_005520.4:p.Ala1236= | |
| NM_001291860.2:c.3711G>A | NP_001278789.1:p.Ala1237= |