Linked Data
ClinVar Variation Id:
1986858
ClinVar RCV Id:
RCV002770833
dbSNP Id:
rs985047210
gnomAD v2:
1-68897012-A-G
gnomAD v3:
1-68431329-A-G
gnomAD v4:
1-68431329-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431329A>G , CM000663.2:g.68431329A>G | GRCh38 |
| NC_000001.10:g.68897012A>G , CM000663.1:g.68897012A>G | GRCh37 |
| NC_000001.9:g.68669600A>G | NCBI36 |
| NG_008472.1:g.23631T>C | |
| NG_008472.2:g.23631T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1291T>C MANE Select | ENSP00000262340.5:p.Tyr431His | |
| ENST00000262340.5:c.1291T>C | ENSP00000262340.5:p.Tyr431His | |
| NM_000329.2:c.1291T>C | NP_000320.1:p.Tyr431His | |
| XM_017002027.1:c.1015T>C | XP_016857516.1:p.Tyr339His | |
| NM_000329.3:c.1291T>C MANE Select | NP_000320.1:p.Tyr431His |