Linked Data
ClinVar Variation Id:
1564704
ClinVar RCV Id:
RCV002212818
dbSNP Id:
rs2123643683
gnomAD v4:
22-18078391-T-C
MyVariant Identifiers:
chr22:g.18561157T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18078391T>C , CM000684.2:g.18078391T>C | GRCh38 |
| NC_000022.10:g.18561157T>C , CM000684.1:g.18561157T>C | GRCh37 |
| NC_000022.9:g.16941157T>C | NCBI36 |
| NG_008339.1:g.5472T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399744.8:c.15T>C MANE Select | ENSP00000382648.4:p.Ser5= | |
| ENST00000474897.6:c.15T>C | ENSP00000434235.2:p.Ser5= | |
| ENST00000329627.11:c.15T>C | ENSP00000331106.5:p.Ser5= | |
| ENST00000399744.7:c.15T>C | ENSP00000382648.3:p.Ser5= | |
| ENST00000428061.2:c.15T>C | ENSP00000412441.2:p.Ser5= | |
| ENST00000474897.5:c.15T>C | ENSP00000434235.1:p.Ser5= | |
| ENST00000610387.4:c.15T>C | ENSP00000482091.1:p.Ser5= | |
| NM_001127649.2:c.15T>C | NP_001121121.1:p.Ser5= | |
| NM_001199319.1:c.15T>C | NP_001186248.1:p.Ser5= | |
| NM_017929.5:c.15T>C | NP_060399.1:p.Ser5= | |
| NM_001127649.3:c.15T>C MANE Select | NP_001121121.1:p.Ser5= | |
| NM_001199319.2:c.15T>C | NP_001186248.1:p.Ser5= | |
| NM_017929.6:c.15T>C | NP_060399.1:p.Ser5= |