Linked Data
ClinVar Variation Id:
340034
ClinVar RCV Id:
RCV000332407
dbSNP Id:
rs886057089
gnomAD v2:
21-43176888-G-T
gnomAD v3:
21-41756728-G-T
gnomAD v4:
21-41756728-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41756728G>T , CM000683.2:g.41756728G>T | GRCh38 |
| NC_000021.8:g.43176888G>T , CM000683.1:g.43176888G>T | GRCh37 |
| NC_000021.7:g.42049957G>T | NCBI36 |
| NG_032113.1:g.15362C>A | |
| NG_032113.2:g.15362C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332512.8:c.271C>A MANE Select | ENSP00000332454.3:p.Pro91Thr | |
| ENST00000332512.7:c.271C>A | ENSP00000332454.3:p.Pro91Thr | |
| ENST00000352483.3:c.271C>A | ENSP00000330161.2:p.Pro91Thr | |
| NM_020639.2:c.271C>A | NP_065690.2:p.Pro91Thr | |
| NM_020639.3:c.271C>A MANE Select | NP_065690.2:p.Pro91Thr |