Linked Data
ClinVar Variation Id:
2616372
ClinVar RCV Id:
RCV003371655
dbSNP Id:
rs761274146
ExAC:
12:52845340 C / T
gnomAD v2:
12-52845340-C-T
gnomAD v4:
12-52451556-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451556C>T , CM000674.2:g.52451556C>T | GRCh38 |
| NC_000012.11:g.52845340C>T , CM000674.1:g.52845340C>T | GRCh37 |
| NC_000012.10:g.51131607C>T | NCBI36 |
| NG_008299.1:g.5571G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.523G>A MANE Select | ENSP00000252252.3:p.Ala175Thr | |
| ENST00000252252.3:c.523G>A | ENSP00000252252.3:p.Ala175Thr | |
| NM_005555.3:c.523G>A | NP_005546.2:p.Ala175Thr | |
| NM_005555.4:c.523G>A MANE Select | NP_005546.2:p.Ala175Thr |