Linked Data
ClinVar Variation Id:
341047
ClinVar RCV Id:
RCV000371844
dbSNP Id:
rs370514627
ExAC:
22:27003901 C / T
gnomAD v2:
22-27003901-C-T
gnomAD v3:
22-26607937-C-T
gnomAD v4:
22-26607937-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26607937C>T , CM000684.2:g.26607937C>T | GRCh38 |
| NC_000022.10:g.27003901C>T , CM000684.1:g.27003901C>T | GRCh37 |
| NC_000022.9:g.25333901C>T | NCBI36 |
| NG_009826.1:g.15091G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647569.1:n.196G>A | ||
| ENST00000647684.1:c.384G>A MANE Select | ENSP00000497249.1:p.Ser128= | |
| ENST00000215939.2:c.384G>A | ENSP00000215939.2:p.Ser128= | |
| NM_001887.3:c.384G>A | NP_001878.1:p.Ser128= | |
| XM_011529899.1:c.384G>A | XP_011528201.1:p.Ser128= | |
| NM_001887.4:c.384G>A MANE Select | NP_001878.1:p.Ser128= | |
| XM_011529899.3:c.384G>A | XP_011528201.1:p.Ser128= |