Linked Data
ClinVar Variation Id:
379975
dbSNP Id:
rs1864112
ExAC:
19:17448961 A / C
gnomAD v2:
19-17448961-A-C
gnomAD v3:
19-17338152-A-C
gnomAD v4:
19-17338152-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17338152A>C , CM000681.2:g.17338152A>C | GRCh38 |
| NC_000019.9:g.17448961A>C , CM000681.1:g.17448961A>C | GRCh37 |
| NC_000019.8:g.17309961A>C | NCBI36 |
| NG_027824.1:g.8171A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324894.13:c.198A>C MANE Select | ENSP00000313818.7:p.Thr66= | |
| ENST00000324894.12:c.198A>C | ENSP00000313818.7:p.Thr66= | |
| ENST00000358792.11:c.198A>C | ENSP00000351644.6:p.Thr66= | |
| ENST00000361619.9:c.264A>C | ENSP00000354598.4:p.Thr88= | |
| ENST00000593297.5:n.163A>C | ||
| ENST00000594018.5:c.198A>C | ENSP00000471421.1:p.Thr66= | |
| ENST00000594345.5:n.611A>C | ||
| ENST00000596001.5:n.567A>C | ||
| ENST00000596166.5:n.360A>C | ||
| ENST00000596218.5:n.442A>C | ||
| ENST00000596941.5:n.307A>C | ||
| ENST00000598038.5:n.998A>C | ||
| ENST00000598493.5:c.198A>C | ENSP00000472156.1:p.Thr66= | |
| ENST00000599329.1:n.301A>C | ||
| ENST00000599429.5:n.293A>C | ||
| ENST00000600610.5:c.*197A>C | ENSP00000469008.1:n.*197A>C | |
| ENST00000600625.5:c.198A>C | ENSP00000473150.1:p.Thr66= | |
| ENST00000600995.5:n.452A>C | ||
| ENST00000601213.5:c.253A>C | ENSP00000471657.1:p.Ser85Arg | |
| ENST00000601261.5:n.163A>C | ||
| ENST00000602165.1:c.181A>C | ENSP00000470109.1:p.Ser61Arg | |
| NM_001128855.2:c.198A>C | NP_001122327.1:p.Thr66= | |
| NM_001195422.1:c.264A>C | NP_001182351.1:p.Thr88= | |
| NM_032620.3:c.198A>C | NP_116009.2:p.Thr66= | |
| NM_133644.3:c.198A>C | NP_598399.2:p.Thr66= | |
| NM_032620.4:c.198A>C MANE Select | NP_116009.2:p.Thr66= | |
| NM_001128855.3:c.198A>C | NP_001122327.1:p.Thr66= | |
| NM_133644.4:c.198A>C | NP_598399.2:p.Thr66= |