Linked Data
ClinVar Variation Id:
338676
dbSNP Id:
rs2273101
gnomAD v2:
20-47538333-C-T
gnomAD v3:
20-48921796-C-T
gnomAD v4:
20-48921796-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.48921796C>T , CM000682.2:g.48921796C>T | GRCh38 |
| NC_000020.10:g.47538333C>T , CM000682.1:g.47538333C>T | GRCh37 |
| NC_000020.9:g.46971740C>T | NCBI36 |
| NG_011490.1:g.5059C>T | |
| NG_011490.2:g.5059C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371917.5:c.-94C>T MANE Select | ENSP00000360985.4:n.-94C>T | |
| NM_006420.2:c.-94C>T | NP_006411.2:n.-94C>T | |
| XM_005260252.2:c.-94C>T | XP_005260309.1:n.-94C>T | |
| XM_005260252.3:c.-94C>T | XP_005260309.1:n.-94C>T | |
| NM_006420.3:c.-94C>T MANE Select | NP_006411.2:n.-94C>T |