Linked Data
ClinVar Variation Id:
501425
dbSNP Id:
rs375836844
ExAC:
1:5927908 T / G
gnomAD v2:
1-5927908-T-G
gnomAD v3:
1-5867848-T-G
gnomAD v4:
1-5867848-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5867848T>G , CM000663.2:g.5867848T>G | GRCh38 |
| NC_000001.10:g.5927908T>G , CM000663.1:g.5927908T>G | GRCh37 |
| NC_000001.9:g.5850495T>G | NCBI36 |
| NG_011724.2:g.129624A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.3364A>C MANE Select | ENSP00000367398.4:p.Thr1122Pro | |
| ENST00000378156.8:c.3364A>C | ENSP00000367398.4:p.Thr1122Pro | |
| ENST00000378161.5:n.528A>C | ||
| ENST00000378169.7:c.*2265A>C | ENSP00000367411.3:n.*2265A>C | |
| ENST00000468253.1:n.639A>C | ||
| ENST00000478423.6:n.3096A>C | ||
| ENST00000489180.6:c.*1175A>C | ENSP00000423747.1:n.*1175A>C | |
| NM_001291593.1:c.1825A>C | NP_001278522.1:p.Thr609Pro | |
| NM_001291594.1:c.1828A>C | NP_001278523.1:p.Thr610Pro | |
| NM_015102.4:c.3364A>C | NP_055917.1:p.Thr1122Pro | |
| NR_111987.1:n.4179A>C | ||
| XM_006710563.2:c.3364A>C | XP_006710626.1:p.Thr1122Pro | |
| XM_006710565.2:c.3364A>C | XP_006710628.1:p.Thr1122Pro | |
| XM_011541213.1:c.3361A>C | XP_011539515.1:p.Thr1121Pro | |
| XM_011541214.1:c.3322A>C | XP_011539516.1:p.Thr1108Pro | |
| XM_011541215.1:c.3253A>C | XP_011539517.1:p.Thr1085Pro | |
| XM_011541216.1:c.3364A>C | XP_011539518.1:p.Thr1122Pro | |
| XM_011541217.1:c.3364A>C | XP_011539519.1:p.Thr1122Pro | |
| XM_011541218.1:c.3364A>C | XP_011539520.1:p.Thr1122Pro | |
| XM_011541219.1:c.3310A>C | XP_011539521.1:p.Thr1104Pro | |
| XM_011541220.1:c.3364A>C | XP_011539522.1:p.Thr1122Pro | |
| XR_946604.1:n.3215A>C | ||
| XM_006710563.3:c.3364A>C | XP_006710626.1:p.Thr1122Pro | |
| XM_011541216.2:c.3364A>C | XP_011539518.1:p.Thr1122Pro | |
| XM_011541217.2:c.3364A>C | XP_011539519.1:p.Thr1122Pro | |
| XM_011541218.2:c.3364A>C | XP_011539520.1:p.Thr1122Pro | |
| XM_017000996.1:c.3319A>C | XP_016856485.1:p.Thr1107Pro | |
| XM_017000997.1:c.3364A>C | XP_016856486.1:p.Thr1122Pro | |
| XM_017000998.1:c.3364A>C | XP_016856487.1:p.Thr1122Pro | |
| XM_017000999.1:c.2836A>C | XP_016856488.1:p.Thr946Pro | |
| XM_017001000.2:c.2836A>C | XP_016856489.1:p.Thr946Pro | |
| XM_017001001.1:c.2566A>C | XP_016856490.1:p.Thr856Pro | |
| XM_017001003.1:c.1825A>C | XP_016856492.1:p.Thr609Pro | |
| XR_001737114.1:n.3402A>C | ||
| XR_001737115.1:n.3215A>C | ||
| NM_015102.5:c.3364A>C MANE Select | NP_055917.1:p.Thr1122Pro | |
| NM_001291593.2:c.1825A>C | NP_001278522.1:p.Thr609Pro | |
| NM_001291594.2:c.1828A>C | NP_001278523.1:p.Thr610Pro | |
| NR_111987.2:n.4131A>C |