Linked Data
dbSNP Id:
rs757852003
ExAC:
17:39742717 C / T
gnomAD v2:
17-39742717-C-T
gnomAD v4:
17-41586465-C-T
COSMIC:
COSM261714
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586465C>T , CM000679.2:g.41586465C>T | GRCh38 |
| NC_000017.10:g.39742717C>T , CM000679.1:g.39742717C>T | GRCh37 |
| NC_000017.9:g.36996243C>T | NCBI36 |
| NG_008624.1:g.5431G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.370G>A MANE Select | ENSP00000167586.6:p.Asp124Asn | |
| ENST00000167586.6:c.370G>A | ENSP00000167586.6:p.Asp124Asn | |
| NM_000526.4:c.370G>A | NP_000517.2:p.Asp124Asn | |
| NM_000526.5:c.370G>A MANE Select | NP_000517.3:p.Asp124Asn |