Linked Data
ClinVar Variation Id:
2429668
ClinVar RCV Id:
RCV003127122
dbSNP Id:
rs200661005
gnomAD v4:
1-68429816-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429816T>A , CM000663.2:g.68429816T>A | GRCh38 |
| NC_000001.10:g.68895499T>A , CM000663.1:g.68895499T>A | GRCh37 |
| NC_000001.9:g.68668087T>A | NCBI36 |
| NG_008472.1:g.25144A>T | |
| NG_008472.2:g.25144A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1562A>T MANE Select | ENSP00000262340.5:p.Asn521Ile | |
| ENST00000262340.5:c.1562A>T | ENSP00000262340.5:p.Asn521Ile | |
| NM_000329.2:c.1562A>T | NP_000320.1:p.Asn521Ile | |
| XM_017002027.1:c.1286A>T | XP_016857516.1:p.Asn429Ile | |
| NM_000329.3:c.1562A>T MANE Select | NP_000320.1:p.Asn521Ile |