Linked Data
dbSNP Id:
rs1186995235
gnomAD v2:
8-23049368-C-A
gnomAD v3:
8-23191855-C-A
gnomAD v4:
8-23191855-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191855C>A , CM000670.2:g.23191855C>A | GRCh38 |
| NC_000008.10:g.23049368C>A , CM000670.1:g.23049368C>A | GRCh37 |
| NC_000008.9:g.23105313C>A | NCBI36 |
| NG_032107.1:g.38313G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1246G>T MANE Select | ENSP00000221132.3:p.Val416Phe | |
| ENST00000221132.7:c.1246G>T | ENSP00000221132.3:p.Val416Phe | |
| ENST00000519862.1:n.301G>T | ||
| ENST00000613472.1:c.772G>T | ENSP00000480778.1:p.Val258Phe | |
| NM_003844.3:c.1246G>T | NP_003835.3:p.Val416Phe | |
| NM_003844.4:c.1246G>T MANE Select | NP_003835.3:p.Val416Phe |