Linked Data
ClinVar Variation Id:
340868
ClinVar RCV Id:
RCV000278730
dbSNP Id:
rs530035476
gnomAD v2:
22-21243713-T-C
gnomAD v3:
22-20889425-T-C
gnomAD v4:
22-20889425-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20889425T>C , CM000684.2:g.20889425T>C | GRCh38 |
| NC_000022.10:g.21243713T>C , CM000684.1:g.21243713T>C | GRCh37 |
| NC_000022.9:g.19573713T>C | NCBI36 |
| NG_012152.1:g.35422T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000215730.12:c.*1589T>C MANE Select | ENSP00000215730.6:n.*1589T>C | |
| ENST00000215730.11:c.*1589T>C | ENSP00000215730.6:n.*1589T>C | |
| NM_004782.3:c.*1589T>C | NP_004773.1:n.*1589T>C | |
| NM_004782.4:c.*1589T>C MANE Select | NP_004773.1:n.*1589T>C |