Linked Data
dbSNP Id:
rs1907423924
gnomAD v4:
17-41583769-G-A
COSMIC:
COSM6464851
MyVariant Identifiers:
chr17:g.39740021G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583769G>A , CM000679.2:g.41583769G>A | GRCh38 |
| NC_000017.10:g.39740021G>A , CM000679.1:g.39740021G>A | GRCh37 |
| NC_000017.9:g.36993547G>A | NCBI36 |
| NG_008624.1:g.8127C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.918C>T MANE Select | ENSP00000167586.6:p.Phe306= | |
| ENST00000167586.6:c.918C>T | ENSP00000167586.6:p.Phe306= | |
| ENST00000476662.1:n.368C>T | ||
| NM_000526.4:c.918C>T | NP_000517.2:p.Phe306= | |
| NM_000526.5:c.918C>T MANE Select | NP_000517.3:p.Phe306= |