Linked Data
ClinVar Variation Id:
1439143
ClinVar RCV Id:
RCV001934438
dbSNP Id:
rs748958731
ExAC:
12:50501528 C / T
gnomAD v2:
12-50501528-C-T
gnomAD v3:
12-50107745-C-T
gnomAD v4:
12-50107745-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50107745C>T , CM000674.2:g.50107745C>T | GRCh38 |
| NC_000012.11:g.50501528C>T , CM000674.1:g.50501528C>T | GRCh37 |
| NC_000012.10:g.48787795C>T | NCBI36 |
| NG_032155.1:g.765C>T | |
| NG_032168.1:g.8927C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301149.8:c.791C>T MANE Select | ENSP00000301149.3:p.Thr264Ile | |
| ENST00000301149.7:c.791C>T | ENSP00000301149.3:p.Thr264Ile | |
| ENST00000547190.5:n.656-279C>T | ||
| ENST00000548814.1:c.722C>T | ENSP00000446768.1:p.Thr241Ile | |
| NM_001257199.1:c.722C>T | NP_001244128.1:p.Thr241Ile | |
| NM_005276.3:c.791C>T | NP_005267.2:p.Thr264Ile | |
| NM_005276.4:c.791C>T MANE Select | NP_005267.2:p.Thr264Ile | |
| NM_001257199.2:c.722C>T | NP_001244128.1:p.Thr241Ile |