Linked Data
ClinVar Variation Id:
1209934
dbSNP Id:
rs3824968
ExAC:
11:121475922 T / A
gnomAD v2:
11-121475922-T-A
gnomAD v3:
11-121605213-T-A
gnomAD v4:
11-121605213-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121605213T>A , CM000673.2:g.121605213T>A | GRCh38 |
| NC_000011.9:g.121475922T>A , CM000673.1:g.121475922T>A | GRCh37 |
| NC_000011.8:g.120981132T>A | NCBI36 |
| NG_023313.1:g.157962T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260197.12:c.4752T>A MANE Select | ENSP00000260197.6:p.Ala1584= | |
| ENST00000260197.11:c.4752T>A | ENSP00000260197.6:p.Ala1584= | |
| ENST00000525532.5:c.1584T>A | ENSP00000434634.1:p.Ala528= | |
| ENST00000527934.1:c.597T>A | ENSP00000435405.1:p.Ala199= | |
| ENST00000532694.5:c.1290T>A | ENSP00000432131.1:p.Ala430= | |
| ENST00000534286.5:c.1482T>A | ENSP00000436447.1:p.Ala494= | |
| NM_003105.5:c.4752T>A | NP_003096.1:p.Ala1584= | |
| XM_011542963.1:c.4638T>A | XP_011541265.1:p.Ala1546= | |
| XM_011542964.1:c.4752T>A | XP_011541266.1:p.Ala1584= | |
| XM_011542965.1:c.3213T>A | XP_011541267.1:p.Ala1071= | |
| XM_011542966.1:c.2112T>A | XP_011541268.1:p.Ala704= | |
| XM_011542967.1:c.1584T>A | XP_011541269.1:p.Ala528= | |
| XM_011542963.3:c.4638T>A | XP_011541265.1:p.Ala1546= | |
| XM_011542965.3:c.3213T>A | XP_011541267.1:p.Ala1071= | |
| XM_011542967.3:c.1584T>A | XP_011541269.1:p.Ala528= | |
| XM_017018169.2:c.4440T>A | XP_016873658.1:p.Ala1480= | |
| XM_017018170.2:c.4227T>A | XP_016873659.1:p.Ala1409= | |
| XM_017018171.1:c.4752T>A | XP_016873660.1:p.Ala1584= | |
| XM_017018172.2:c.2112T>A | XP_016873661.1:p.Ala704= | |
| NM_003105.6:c.4752T>A MANE Select | NP_003096.2:p.Ala1584= |