Linked Data
ClinVar Variation Id:
21330
ClinVar RCV Id:
RCV000020495
dbSNP Id:
rs113993983
gnomAD v4:
14-50911804-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50911804T>A , CM000676.2:g.50911804T>A | GRCh38 |
| NC_000014.8:g.51378522T>A , CM000676.1:g.51378522T>A | GRCh37 |
| NC_000014.7:g.50448272T>A | NCBI36 |
| NG_012796.1:g.37727A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.1895A>T MANE Select | ENSP00000216392.7:p.Asn632Ile | |
| ENST00000216392.7:c.1895A>T | ENSP00000216392.7:p.Asn632Ile | |
| ENST00000532107.2:n.68A>T | ||
| ENST00000532462.5:c.1895A>T | ENSP00000431657.1:p.Asn632Ile | |
| ENST00000544180.6:c.1793A>T | ENSP00000443787.1:p.Asn598Ile | |
| NM_001163940.1:c.1793A>T | NP_001157412.1:p.Asn598Ile | |
| NM_002863.4:c.1895A>T | NP_002854.3:p.Asn632Ile | |
| NM_002863.5:c.1895A>T MANE Select | NP_002854.3:p.Asn632Ile | |
| NM_001163940.2:c.1793A>T | NP_001157412.1:p.Asn598Ile |