Linked Data
ClinVar Variation Id:
351852
dbSNP Id:
rs559833500
gnomAD v2:
5-148381774-G-T
gnomAD v3:
5-149002211-G-T
gnomAD v4:
5-149002211-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149002211G>T , CM000667.2:g.149002211G>T | GRCh38 |
| NC_000005.9:g.148381774G>T , CM000667.1:g.148381774G>T | GRCh37 |
| NC_000005.8:g.148361967G>T | NCBI36 |
| NG_007947.2:g.65964C>A , LRG_269:g.65964C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515425.6:c.*2500C>A MANE Select | ENSP00000423660.1:n.*2500C>A | |
| ENST00000643113.1:c.1142C>A | ||
| ENST00000675793.1:c.*7424C>A | ENSP00000502039.1:n.*7424C>A | |
| ENST00000323829.9:c.*5755C>A | ENSP00000313025.5:n.*5755C>A | |
| ENST00000504690.5:c.*12+1515C>A | ENSP00000425627.1:n.*12+1515C>A | |
| ENST00000510350.1:n.231+4670C>A | ||
| NM_024577.3:c.*2500C>A , LRG_269t1:c.*2500C>A | NP_078853.2:n.*2500C>A | |
| NM_024577.4:c.*2500C>A MANE Select | NP_078853.2:n.*2500C>A |