Linked Data
ClinVar Variation Id:
349296
dbSNP Id:
rs576284630
gnomAD v2:
4-6271617-C-T
gnomAD v3:
4-6269890-C-T
gnomAD v4:
4-6269890-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6269890C>T , CM000666.2:g.6269890C>T | GRCh38 |
| NC_000004.11:g.6271617C>T , CM000666.1:g.6271617C>T | GRCh37 |
| NC_000004.10:g.6322518C>T | NCBI36 |
| NG_011700.1:g.5041C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506588.6:n.41C>T | ||
| ENST00000682275.1:c.-130C>T | ENSP00000507852.1:n.-130C>T | |
| ENST00000673991.1:c.-126C>T | ENSP00000501033.1:n.-126C>T | |
| ENST00000226760.5:c.-130C>T MANE Select | ENSP00000226760.1:n.-130C>T | |
| ENST00000503569.5:c.-126C>T | ENSP00000423337.1:n.-126C>T | |
| ENST00000506588.5:n.41C>T | ||
| NM_001145853.1:c.-126C>T | NP_001139325.1:n.-126C>T | |
| NM_006005.3:c.-130C>T MANE Select | NP_005996.2:n.-130C>T | |
| XM_017008586.1:c.5-7561C>T | XP_016864075.1:n.5-7561C>T |