Linked Data
ClinVar Variation Id:
347877
dbSNP Id:
rs185391295
gnomAD v2:
4-155672817-C-T
gnomAD v3:
4-154751665-C-T
gnomAD v4:
4-154751665-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154751665C>T , CM000666.2:g.154751665C>T | GRCh38 |
| NC_000004.11:g.155672817C>T , CM000666.1:g.155672817C>T | GRCh37 |
| NC_000004.10:g.155892267C>T | NCBI36 |
| NG_009110.1:g.12655C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336356.4:c.*2529C>T MANE Select | ENSP00000337224.3:n.*2529C>T | |
| ENST00000336356.3:c.*2529C>T | ENSP00000337224.3:n.*2529C>T | |
| ENST00000510733.1:n.3549C>T | ||
| NM_001301645.1:c.*2529C>T | NP_001288574.1:n.*2529C>T | |
| NM_004744.4:c.*2529C>T | NP_004735.2:n.*2529C>T | |
| NM_004744.5:c.*2529C>T MANE Select | NP_004735.2:n.*2529C>T | |
| NM_001301645.2:c.*2529C>T | NP_001288574.1:n.*2529C>T |