Linked Data
dbSNP Id:
rs369970744
ExAC:
12:52827674 C / T
gnomAD v2:
12-52827674-C-T
gnomAD v3:
12-52433890-C-T
gnomAD v4:
12-52433890-C-T
COSMIC:
COSM1705642
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52433890C>T , CM000674.2:g.52433890C>T | GRCh38 |
| NC_000012.11:g.52827674C>T , CM000674.1:g.52827674C>T | GRCh37 |
| NC_000012.10:g.51113941C>T | NCBI36 |
| NG_008403.1:g.5437G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252245.6:c.415G>A MANE Select | ENSP00000252245.5:p.Asp139Asn | |
| ENST00000252245.5:c.415G>A | ENSP00000252245.5:p.Asp139Asn | |
| NM_004693.2:c.415G>A | NP_004684.2:p.Asp139Asn | |
| NM_004693.3:c.415G>A MANE Select | NP_004684.2:p.Asp139Asn |