Linked Data
ClinVar Variation Id:
2098473
ClinVar RCV Id:
RCV003030967
dbSNP Id:
rs763338488
gnomAD v2:
12-5153479-G-T
gnomAD v3:
12-5044313-G-T
gnomAD v4:
12-5044313-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044313G>T , CM000674.2:g.5044313G>T | GRCh38 |
| NC_000012.11:g.5153479G>T , CM000674.1:g.5153479G>T | GRCh37 |
| NC_000012.10:g.5023740G>T | NCBI36 |
| NG_012198.1:g.5395G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.166G>T MANE Select | ENSP00000252321.3:p.Ala56Ser | |
| ENST00000252321.4:c.166G>T | ENSP00000252321.3:p.Ala56Ser | |
| NM_002234.3:c.166G>T | NP_002225.2:p.Ala56Ser | |
| NM_002234.4:c.166G>T MANE Select | NP_002225.2:p.Ala56Ser |