Linked Data
ClinVar Variation Id:
338002
dbSNP Id:
rs536190889
gnomAD v2:
20-25371433-G-A
gnomAD v3:
20-25390797-G-A
gnomAD v4:
20-25390797-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.25390797G>A , CM000682.2:g.25390797G>A | GRCh38 |
| NC_000020.10:g.25371433G>A , CM000682.1:g.25371433G>A | GRCh37 |
| NC_000020.9:g.25319433G>A | NCBI36 |
| NG_028119.1:g.5186C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339157.10:c.-94C>T MANE Select | ENSP00000341408.5:n.-94C>T | |
| ENST00000376542.8:c.-94C>T | ENSP00000365725.3:n.-94C>T | |
| ENST00000339157.9:c.-94C>T | ENSP00000341408.5:n.-94C>T | |
| ENST00000376542.7:c.-94C>T | ENSP00000365725.3:n.-94C>T | |
| NM_001042472.2:c.-94C>T | NP_001035937.1:n.-94C>T | |
| NM_015600.4:c.-94C>T | NP_056415.1:n.-94C>T | |
| NM_001042472.3:c.-94C>T MANE Select | NP_001035937.1:n.-94C>T | |
| NM_015600.5:c.-94C>T | NP_056415.1:n.-94C>T |