Linked Data
ClinVar Variation Id:
1674105
ClinVar RCV Id:
RCV002206421
dbSNP Id:
rs1196520673
gnomAD v4:
9-26907949-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.26907949A>T , CM000671.2:g.26907949A>T | GRCh38 |
| NC_000009.11:g.26907947A>T , CM000671.1:g.26907947A>T | GRCh37 |
| NC_000009.10:g.26897947A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397292.8:c.1707T>A MANE Select | ENSP00000380460.3:p.Thr569= | |
| ENST00000397292.7:c.1707T>A | ENSP00000380460.3:p.Thr569= | |
| ENST00000487173.5:c.286T>A | ||
| ENST00000517642.5:c.675-1873T>A | ||
| ENST00000520884.5:c.1707T>A | ENSP00000429372.1:p.Thr569= | |
| NM_001031689.2:c.1707T>A | NP_001026859.1:p.Thr569= | |
| XM_011518071.1:c.1638T>A | XP_011516373.1:p.Thr546= | |
| NM_001321546.1:c.1638T>A | NP_001308475.1:p.Thr546= | |
| XR_001746420.2:n.2012T>A | ||
| NM_001031689.3:c.1707T>A MANE Select | NP_001026859.1:p.Thr569= | |
| NM_001321546.2:c.1638T>A | NP_001308475.1:p.Thr546= |