Linked Data
ClinVar Variation Id:
349295
dbSNP Id:
rs886059521
gnomAD v2:
4-6271614-G-T
gnomAD v3:
4-6269887-G-T
gnomAD v4:
4-6269887-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6269887G>T , CM000666.2:g.6269887G>T | GRCh38 |
| NC_000004.11:g.6271614G>T , CM000666.1:g.6271614G>T | GRCh37 |
| NC_000004.10:g.6322515G>T | NCBI36 |
| NG_011700.1:g.5038G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506588.6:n.38G>T | ||
| ENST00000682275.1:c.-133G>T | ENSP00000507852.1:n.-133G>T | |
| ENST00000673991.1:c.-129G>T | ENSP00000501033.1:n.-129G>T | |
| ENST00000226760.5:c.-133G>T MANE Select | ENSP00000226760.1:n.-133G>T | |
| ENST00000503569.5:c.-129G>T | ENSP00000423337.1:n.-129G>T | |
| ENST00000506588.5:n.38G>T | ||
| NM_001145853.1:c.-129G>T | NP_001139325.1:n.-129G>T | |
| NM_006005.3:c.-133G>T MANE Select | NP_005996.2:n.-133G>T | |
| XM_017008586.1:c.5-7564G>T | XP_016864075.1:n.5-7564G>T |