Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4379410T>C , CM000674.2:g.4379410T>C | GRCh38 |
| NC_000012.11:g.4488576T>C , CM000674.1:g.4488576T>C | GRCh37 |
| NC_000012.10:g.4358837T>C | NCBI36 |
| NG_007087.1:g.5319A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237837.2:c.173A>G MANE Select | ENSP00000237837.1:p.Asn58Ser | |
| ENST00000648100.1:c.*1967+13128T>C | ENSP00000497536.1:n.*1967+13128T>C | |
| ENST00000674624.1:c.*1204+13128T>C | ENSP00000501898.1:n.*1204+13128T>C | |
| ENST00000237837.1:c.173A>G | ENSP00000237837.1:p.Asn58Ser | |
| NM_020638.2:c.173A>G | NP_065689.1:p.Asn58Ser | |
| NM_020638.3:c.173A>G MANE Select | NP_065689.1:p.Asn58Ser |