Linked Data
dbSNP Id:
rs868182778
gnomAD v2:
10-96748780-G-T
gnomAD v3:
10-94989023-G-T
gnomAD v4:
10-94989023-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989023G>T , CM000672.2:g.94989023G>T | GRCh38 |
| NC_000010.10:g.96748780G>T , CM000672.1:g.96748780G>T | GRCh37 |
| NC_000010.9:g.96738770G>T | NCBI36 |
| NG_008385.1:g.55366G>T | |
| NG_008385.2:g.55866G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.1468G>T MANE Select | ENSP00000260682.6:p.Val490Phe | |
| ENST00000643112.1:c.*477G>T | ENSP00000496202.1:n.*477G>T | |
| ENST00000260682.6:c.1468G>T | ENSP00000260682.6:p.Val490Phe | |
| NM_000771.3:c.1468G>T | NP_000762.2:p.Val490Phe | |
| NM_000771.4:c.1468G>T MANE Select | NP_000762.2:p.Val490Phe |