Linked Data
ClinVar Variation Id:
3402
ClinVar RCV Id:
RCV000003571
dbSNP Id:
rs28940891
gnomAD v4:
1-5874946-A-G
PubMed:
PMID:12244321
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5874946A>G , CM000663.2:g.5874946A>G | GRCh38 |
| NC_000001.10:g.5935006A>G , CM000663.1:g.5935006A>G | GRCh37 |
| NC_000001.9:g.5857593A>G | NCBI36 |
| NG_011724.2:g.122526T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.2972T>C MANE Select | ENSP00000367398.4:p.Phe991Ser | |
| ENST00000378156.8:c.2972T>C | ENSP00000367398.4:p.Phe991Ser | |
| ENST00000378169.7:c.*1873T>C | ENSP00000367411.3:n.*1873T>C | |
| ENST00000478423.6:n.2704T>C | ||
| ENST00000489180.6:c.*783T>C | ENSP00000423747.1:n.*783T>C | |
| ENST00000506941.1:n.529T>C | ||
| NM_001291593.1:c.1433T>C | NP_001278522.1:p.Phe478Ser | |
| NM_001291594.1:c.1436T>C | NP_001278523.1:p.Phe479Ser | |
| NM_015102.4:c.2972T>C | NP_055917.1:p.Phe991Ser | |
| NR_111987.1:n.3787T>C | ||
| XM_006710563.2:c.2972T>C | XP_006710626.1:p.Phe991Ser | |
| XM_006710565.2:c.2972T>C | XP_006710628.1:p.Phe991Ser | |
| XM_011541213.1:c.2969T>C | XP_011539515.1:p.Phe990Ser | |
| XM_011541214.1:c.2930T>C | XP_011539516.1:p.Phe977Ser | |
| XM_011541215.1:c.2861T>C | XP_011539517.1:p.Phe954Ser | |
| XM_011541216.1:c.2972T>C | XP_011539518.1:p.Phe991Ser | |
| XM_011541217.1:c.2972T>C | XP_011539519.1:p.Phe991Ser | |
| XM_011541218.1:c.2972T>C | XP_011539520.1:p.Phe991Ser | |
| XM_011541219.1:c.2918T>C | XP_011539521.1:p.Phe973Ser | |
| XM_011541220.1:c.2972T>C | XP_011539522.1:p.Phe991Ser | |
| XR_946604.1:n.3010T>C | ||
| XM_006710563.3:c.2972T>C | XP_006710626.1:p.Phe991Ser | |
| XM_011541216.2:c.2972T>C | XP_011539518.1:p.Phe991Ser | |
| XM_011541217.2:c.2972T>C | XP_011539519.1:p.Phe991Ser | |
| XM_011541218.2:c.2972T>C | XP_011539520.1:p.Phe991Ser | |
| XM_017000996.1:c.2927T>C | XP_016856485.1:p.Phe976Ser | |
| XM_017000997.1:c.2972T>C | XP_016856486.1:p.Phe991Ser | |
| XM_017000998.1:c.2972T>C | XP_016856487.1:p.Phe991Ser | |
| XM_017000999.1:c.2444T>C | XP_016856488.1:p.Phe815Ser | |
| XM_017001000.2:c.2444T>C | XP_016856489.1:p.Phe815Ser | |
| XM_017001001.1:c.2174T>C | XP_016856490.1:p.Phe725Ser | |
| XM_017001003.1:c.1433T>C | XP_016856492.1:p.Phe478Ser | |
| XR_001737114.1:n.3010T>C | ||
| XR_001737115.1:n.3010T>C | ||
| NM_015102.5:c.2972T>C MANE Select | NP_055917.1:p.Phe991Ser | |
| NM_001291593.2:c.1433T>C | NP_001278522.1:p.Phe478Ser | |
| NM_001291594.2:c.1436T>C | NP_001278523.1:p.Phe479Ser | |
| NR_111987.2:n.3739T>C |