Linked Data
ClinVar Variation Id:
1427648
ClinVar RCV Id:
RCV001933821
dbSNP Id:
rs2145902248
COSMIC:
COSM1391736
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787581C>T , CM000681.2:g.18787581C>T | GRCh38 |
| NC_000019.9:g.18898390C>T , CM000681.1:g.18898390C>T | GRCh37 |
| NC_000019.8:g.18759390C>T | NCBI36 |
| NG_007070.1:g.8725G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1045G>A MANE Select | ENSP00000222271.2:p.Asp349Asn | |
| ENST00000222271.6:c.1045G>A | ENSP00000222271.2:p.Asp349Asn | |
| ENST00000425807.1:c.886G>A | ENSP00000403792.1:p.Asp296Asn | |
| ENST00000542601.6:c.946G>A | ENSP00000439156.2:p.Asp316Asn | |
| NM_000095.2:c.1045G>A | NP_000086.2:p.Asp349Asn | |
| NM_000095.3:c.1045G>A MANE Select | NP_000086.2:p.Asp349Asn |