Linked Data
ClinVar Variation Id:
3113037
ClinVar RCV Id:
RCV004405929
dbSNP Id:
rs776218588
ExAC:
12:5153471 G / T
gnomAD v2:
12-5153471-G-T
gnomAD v3:
12-5044305-G-T
gnomAD v4:
12-5044305-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044305G>T , CM000674.2:g.5044305G>T | GRCh38 |
| NC_000012.11:g.5153471G>T , CM000674.1:g.5153471G>T | GRCh37 |
| NC_000012.10:g.5023732G>T | NCBI36 |
| NG_012198.1:g.5387G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.158G>T MANE Select | ENSP00000252321.3:p.Gly53Val | |
| ENST00000252321.4:c.158G>T | ENSP00000252321.3:p.Gly53Val | |
| NM_002234.3:c.158G>T | NP_002225.2:p.Gly53Val | |
| NM_002234.4:c.158G>T MANE Select | NP_002225.2:p.Gly53Val |