Linked Data
ClinVar Variation Id:
2220231
ClinVar RCV Id:
RCV004089672
dbSNP Id:
rs941152054
gnomAD v2:
14-74411287-A-G
gnomAD v3:
14-73944584-A-G
gnomAD v4:
14-73944584-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73944584A>G , CM000676.2:g.73944584A>G | GRCh38 |
| NC_000014.8:g.74411287A>G , CM000676.1:g.74411287A>G | GRCh37 |
| NC_000014.7:g.73481040A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286544.5:c.676T>C MANE Select | ENSP00000286544.4:p.Tyr226His | |
| ENST00000651776.1:c.865T>C | ENSP00000499021.1:p.Tyr289His | |
| ENST00000286544.3:c.865T>C | ENSP00000286544.3:p.Tyr289His | |
| NM_152445.2:c.865T>C | NP_689658.2:p.Tyr289His | |
| XM_011536475.1:c.865T>C | XP_011534777.1:p.Tyr289His | |
| NM_152445.3:c.676T>C MANE Select | NP_689658.3:p.Tyr226His | |
| XM_011536475.2:c.865T>C | XP_011534777.1:p.Tyr289His |