Linked Data
dbSNP Id:
rs774654016
ExAC:
10:96541704 A / T
gnomAD v2:
10-96541704-A-T
gnomAD v4:
10-94781947-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781947A>T , CM000672.2:g.94781947A>T | GRCh38 |
| NC_000010.10:g.96541704A>T , CM000672.1:g.96541704A>T | GRCh37 |
| NC_000010.9:g.96531694A>T | NCBI36 |
| NG_008384.2:g.24242A>T | |
| NG_008384.3:g.24267A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.769A>T MANE Select | ENSP00000360372.3:p.Ile257Phe | |
| ENST00000645461.1:n.1822A>T | ||
| ENST00000371321.7:c.769A>T | ENSP00000360372.3:p.Ile257Phe | |
| ENST00000464755.1:c.1532A>T | ENSP00000483243.1:n.1532A>T | |
| NM_000769.2:c.769A>T | NP_000760.1:p.Ile257Phe | |
| NM_000769.4:c.769A>T MANE Select | NP_000760.1:p.Ile257Phe |