Linked Data
dbSNP Id:
rs756292892
ExAC:
17:7357787 A / T
gnomAD v2:
17-7357787-A-T
gnomAD v4:
17-7454468-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454468A>T , CM000679.2:g.7454468A>T | GRCh38 |
| NC_000017.10:g.7357787A>T , CM000679.1:g.7357787A>T | GRCh37 |
| NC_000017.9:g.7298511A>T | NCBI36 |
| NG_008026.1:g.14382A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.992A>T MANE Select | ENSP00000304290.2:p.Asn331Ile | |
| ENST00000306071.6:c.992A>T | ENSP00000304290.2:p.Asn331Ile | |
| ENST00000536404.6:c.776A>T | ENSP00000439209.2:p.Asn259Ile | |
| ENST00000570557.5:c.655A>T | ||
| ENST00000573209.1:n.1936A>T | ||
| ENST00000576360.1:c.629A>T | ENSP00000459092.1:p.Asn210Ile | |
| NM_000747.2:c.992A>T | NP_000738.2:p.Asn331Ile | |
| NM_000747.3:c.992A>T MANE Select | NP_000738.2:p.Asn331Ile |