Linked Data
ClinVar Variation Id:
469592
ClinVar RCV Id:
RCV000541280
dbSNP Id:
rs886049572
gnomAD v2:
12-5153349-T-G
gnomAD v3:
12-5044183-T-G
gnomAD v4:
12-5044183-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044183T>G , CM000674.2:g.5044183T>G | GRCh38 |
| NC_000012.11:g.5153349T>G , CM000674.1:g.5153349T>G | GRCh37 |
| NC_000012.10:g.5023610T>G | NCBI36 |
| NG_012198.1:g.5265T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252321.5:c.36T>G MANE Select | ENSP00000252321.3:p.Gly12= | |
| ENST00000252321.4:c.36T>G | ENSP00000252321.3:p.Gly12= | |
| NM_002234.3:c.36T>G | NP_002225.2:p.Gly12= | |
| NM_002234.4:c.36T>G MANE Select | NP_002225.2:p.Gly12= |