Linked Data
ClinVar Variation Id:
302215
ClinVar RCV Id:
RCV000364064
dbSNP Id:
rs145690535
gnomAD v2:
11-108018331-G-C
gnomAD v3:
11-108147604-G-C
gnomAD v4:
11-108147604-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108147604G>C , CM000673.2:g.108147604G>C | GRCh38 |
| NC_000011.9:g.108018331G>C , CM000673.1:g.108018331G>C | GRCh37 |
| NC_000011.8:g.107523541G>C | NCBI36 |
| NG_009888.1:g.31074G>C | |
| NG_009888.2:g.35900G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265838.8:c.*214G>C | ENSP00000265838.4:n.*214G>C | |
| NM_000019.3:c.*214G>C | NP_000010.1:n.*214G>C | |
| XM_006718834.2:c.*214G>C | XP_006718897.1:n.*214G>C | |
| XM_006718835.2:c.*214G>C | XP_006718898.1:n.*214G>C | |
| XM_017017682.2:c.*214G>C | XP_016873171.1:n.*214G>C | |
| XM_017017683.2:c.*214G>C | XP_016873172.1:n.*214G>C |