Linked Data
ClinVar Variation Id:
136735
dbSNP Id:
rs199715380
gnomAD v2:
2-131355106-C-T
gnomAD v3:
2-130597533-C-T
gnomAD v4:
2-130597533-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.130597533C>T , CM000664.2:g.130597533C>T | GRCh38 |
| NC_000002.11:g.131355106C>T , CM000664.1:g.131355106C>T | GRCh37 |
| NC_000002.10:g.131071576C>T | NCBI36 |
| NG_008148.1:g.6977G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259216.6:c.433G>A MANE Select | ENSP00000259216.5:p.Ala145Thr | |
| ENST00000259216.4:c.433G>A | ENSP00000259216.4:p.Ala145Thr | |
| ENST00000615342.4:c.318G>A | ENSP00000480526.1:p.Gly106= | |
| ENST00000621673.4:c.247+1109G>A | ENSP00000480843.1:n.247+1109G>A | |
| NM_001270420.1:c.318G>A | NP_001257349.1:p.Gly106= | |
| NM_001270421.1:c.247+1109G>A | NP_001257350.1:n.247+1109G>A | |
| NM_032545.3:c.433G>A | NP_115934.1:p.Ala145Thr | |
| NM_032545.4:c.433G>A MANE Select | NP_115934.1:p.Ala145Thr | |
| NM_001270420.2:c.318G>A | NP_001257349.1:p.Gly106= | |
| NM_001270421.2:c.247+1109G>A | NP_001257350.1:n.247+1109G>A |