Linked Data
dbSNP Id:
rs763531887
ExAC:
15:75047346 G / A
gnomAD v2:
15-75047346-G-A
gnomAD v4:
15-74755005-G-A
COSMIC:
COSM3503989
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74755005G>A , CM000677.2:g.74755005G>A | GRCh38 |
| NC_000015.9:g.75047346G>A , CM000677.1:g.75047346G>A | GRCh37 |
| NC_000015.8:g.72834399G>A | NCBI36 |
| NG_008431.1:g.37464G>A | |
| NG_008431.2:g.37464G>A | |
| NG_061543.1:g.11161G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1468G>A MANE Select | ENSP00000342007.4:p.Asp490Asn | |
| ENST00000343932.4:c.1468G>A | ENSP00000342007.4:p.Asp490Asn | |
| NM_000761.4:c.1468G>A | NP_000752.2:p.Asp490Asn | |
| NM_000761.5:c.1468G>A MANE Select | NP_000752.2:p.Asp490Asn |