Linked Data
dbSNP Id:
rs770580423
ExAC:
17:7358773 T / C
gnomAD v2:
17-7358773-T-C
gnomAD v4:
17-7455454-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7455454T>C , CM000679.2:g.7455454T>C | GRCh38 |
| NC_000017.10:g.7358773T>C , CM000679.1:g.7358773T>C | GRCh37 |
| NC_000017.9:g.7299497T>C | NCBI36 |
| NG_008026.1:g.15368T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306071.7:c.1215T>C MANE Select | ENSP00000304290.2:p.Asn405= | |
| ENST00000306071.6:c.1215T>C | ENSP00000304290.2:p.Asn405= | |
| ENST00000536404.6:c.999T>C | ENSP00000439209.2:p.Asn333= | |
| ENST00000570557.5:c.878T>C | ||
| ENST00000573209.1:n.2159T>C | ||
| ENST00000576360.1:c.852T>C | ENSP00000459092.1:p.Asn284= | |
| NM_000747.2:c.1215T>C | NP_000738.2:p.Asn405= | |
| NM_000747.3:c.1215T>C MANE Select | NP_000738.2:p.Asn405= |