Linked Data
ClinVar Variation Id:
138564
dbSNP Id:
rs6337
ExAC:
1:156848995 C / T
gnomAD v2:
1-156848995-C-T
gnomAD v3:
1-156879203-C-T
gnomAD v4:
1-156879203-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156879203C>T , CM000663.2:g.156879203C>T | GRCh38 |
| NC_000001.10:g.156848995C>T , CM000663.1:g.156848995C>T | GRCh37 |
| NC_000001.9:g.155115619C>T | NCBI36 |
| NG_007493.1:g.68454C>T , LRG_261:g.68454C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.1707C>T | ENSP00000502725.1:p.Ala569= | |
| ENST00000392302.7:c.1707C>T | ENSP00000376120.3:p.Ala569= | |
| ENST00000497019.7:c.*479C>T | ENSP00000436804.2:n.*479C>T | |
| ENST00000524377.7:c.1887C>T MANE Select | ENSP00000431418.1:p.Ala629= | |
| ENST00000674537.1:c.1707C>T | ENSP00000502725.1:p.Ala569= | |
| ENST00000358660.3:c.1878C>T | ENSP00000351486.3:p.Ala626= | |
| ENST00000368196.7:c.1869C>T | ENSP00000357179.3:p.Ala623= | |
| ENST00000392302.6:c.1779C>T | ENSP00000376120.2:p.Ala593= | |
| ENST00000497019.6:c.*479C>T | ENSP00000436804.1:n.*479C>T | |
| ENST00000524377.5:c.1887C>T | ENSP00000431418.1:p.Ala629= | |
| ENST00000530298.5:n.2340C>T | ||
| NM_001007792.1:c.1779C>T , LRG_261t1:c.1779C>T | NP_001007793.1:p.Ala593= | |
| NM_001012331.1:c.1869C>T , LRG_261t2:c.1869C>T | NP_001012331.1:p.Ala623= | |
| NM_002529.3:c.1887C>T , LRG_261t3:c.1887C>T | NP_002520.2:p.Ala629= | |
| NM_001012331.2:c.1869C>T | NP_001012331.1:p.Ala623= | |
| NM_002529.4:c.1887C>T MANE Select | NP_002520.2:p.Ala629= |