Linked Data
ClinVar Variation Id:
300675
dbSNP Id:
rs730720
gnomAD v2:
10-73772762-C-T
gnomAD v3:
10-72013004-C-T
gnomAD v4:
10-72013004-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72013004C>T , CM000672.2:g.72013004C>T | GRCh38 |
| NC_000010.10:g.73772762C>T , CM000672.1:g.73772762C>T | GRCh37 |
| NC_000010.9:g.73442768C>T | NCBI36 |
| NG_012635.1:g.53643C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373115.5:c.*4533C>T MANE Select | ENSP00000362207.4:n.*4533C>T | |
| ENST00000373115.4:c.*4533C>T | ENSP00000362207.4:n.*4533C>T | |
| NM_004273.4:c.*4533C>T | NP_004264.2:n.*4533C>T | |
| XM_006718075.2:c.*4533C>T | XP_006718138.1:n.*4533C>T | |
| XM_011540369.1:c.*4533C>T | XP_011538671.1:n.*4533C>T | |
| XM_006718075.4:c.*4533C>T | XP_006718138.1:n.*4533C>T | |
| XM_011540369.2:c.*4533C>T | XP_011538671.1:n.*4533C>T | |
| NM_004273.5:c.*4533C>T MANE Select | NP_004264.2:n.*4533C>T |