Linked Data
ClinVar Variation Id:
2549623
ClinVar RCV Id:
RCV003277589
dbSNP Id:
rs2107744416
gnomAD v4:
3-138946296-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946296A>G , CM000665.2:g.138946296A>G | GRCh38 |
| NC_000003.11:g.138665138A>G , CM000665.1:g.138665138A>G | GRCh37 |
| NC_000003.10:g.140147828A>G | NCBI36 |
| NG_012454.1:g.5845T>C | |
| NG_029796.1:g.4063A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.427T>C MANE Select | ENSP00000497217.1:p.Tyr143His | |
| ENST00000330315.3:c.427T>C | ENSP00000333188.3:p.Tyr143His | |
| NM_023067.3:c.427T>C | NP_075555.1:p.Tyr143His | |
| NM_023067.4:c.427T>C MANE Select | NP_075555.1:p.Tyr143His |