Linked Data
dbSNP Id:
rs145034923
ExAC:
19:18896563 C / T
gnomAD v2:
19-18896563-C-T
gnomAD v4:
19-18785753-C-T
COSMIC:
COSM417691
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785753C>T , CM000681.2:g.18785753C>T | GRCh38 |
| NC_000019.9:g.18896563C>T , CM000681.1:g.18896563C>T | GRCh37 |
| NC_000019.8:g.18757563C>T | NCBI36 |
| NG_007070.1:g.10552G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1588G>A MANE Select | ENSP00000222271.2:p.Asp530Asn | |
| ENST00000222271.6:c.1588G>A | ENSP00000222271.2:p.Asp530Asn | |
| ENST00000425807.1:c.1429G>A | ENSP00000403792.1:p.Asp477Asn | |
| ENST00000542601.6:c.1489G>A | ENSP00000439156.2:p.Asp497Asn | |
| NM_000095.2:c.1588G>A | NP_000086.2:p.Asp530Asn | |
| NM_000095.3:c.1588G>A MANE Select | NP_000086.2:p.Asp530Asn |