Linked Data
ClinVar Variation Id:
2359921
ClinVar RCV Id:
RCV002978488
dbSNP Id:
rs2143250180
gnomAD v4:
17-72123563-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123563A>C , CM000679.2:g.72123563A>C | GRCh38 |
| NC_000017.10:g.70119704A>C , CM000679.1:g.70119704A>C | GRCh37 |
| NC_000017.9:g.67631299A>C | NCBI36 |
| NG_012490.1:g.7544A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.706A>C MANE Select | ENSP00000245479.2:p.Thr236Pro | |
| ENST00000245479.2:c.706A>C | ENSP00000245479.2:p.Thr236Pro | |
| NM_000346.3:c.706A>C | NP_000337.1:p.Thr236Pro | |
| NM_000346.4:c.706A>C MANE Select | NP_000337.1:p.Thr236Pro |