Linked Data
ClinVar Variation Id:
925736
dbSNP Id:
rs2071648139
gnomAD v3:
12-110911106-T-C
gnomAD v4:
12-110911106-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110911106T>C , CM000674.2:g.110911106T>C | GRCh38 |
| NC_000012.11:g.111348910T>C , CM000674.1:g.111348910T>C | GRCh37 |
| NC_000012.10:g.109833293T>C | NCBI36 |
| NG_007554.1:g.14472A>G , LRG_393:g.14472A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.472A>G MANE Select | ENSP00000228841.8:p.Ile158Val | |
| ENST00000663220.1:c.415A>G | ENSP00000499568.1:p.Ile139Val | |
| ENST00000228841.12:c.472A>G | ENSP00000228841.7:p.Ile158Val | |
| ENST00000548438.1:c.430A>G | ENSP00000447154.1:p.Ile144Val | |
| NM_000432.3:c.472A>G , LRG_393t1:c.472A>G | NP_000423.2:p.Ile158Val | |
| NM_000432.4:c.472A>G MANE Select | NP_000423.2:p.Ile158Val |