Linked Data
ClinVar Variation Id:
17843
dbSNP Id:
rs104894338
ExAC:
12:50344912 G / T
gnomAD v2:
12-50344912-G-T
gnomAD v3:
12-49951129-G-T
gnomAD v4:
12-49951129-G-T
PubMed:
PMID:12050236
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49951129G>T , CM000674.2:g.49951129G>T | GRCh38 |
| NC_000012.11:g.50344912G>T , CM000674.1:g.50344912G>T | GRCh37 |
| NC_000012.10:g.48631179G>T | NCBI36 |
| NG_008913.1:g.5389G>T , LRG_717:g.5389G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000199280.4:c.299G>T MANE Select | ENSP00000199280.3:p.Gly100Val | |
| ENST00000199280.3:c.299G>T | ENSP00000199280.3:p.Gly100Val | |
| ENST00000550862.1:c.299G>T | ENSP00000450022.1:p.Gly100Val | |
| ENST00000551526.5:c.299G>T | ENSP00000447148.1:p.Gly100Val | |
| NM_000486.5:c.299G>T , LRG_717t1:c.299G>T | NP_000477.1:p.Gly100Val | |
| NM_000486.6:c.299G>T MANE Select | NP_000477.1:p.Gly100Val |