Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.20643261C>A , CM000669.2:g.20643261C>A | GRCh38 |
| NC_000007.13:g.20682884C>A , CM000669.1:g.20682884C>A | GRCh37 |
| NC_000007.12:g.20649409C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404938.7:c.392C>A MANE Select | ENSP00000384881.2:p.Thr131Asn | |
| ENST00000404938.6:c.392C>A | ENSP00000384881.2:p.Thr131Asn | |
| NM_001163941.1:c.392C>A | NP_001157413.1:p.Thr131Asn | |
| NM_001163941.2:c.392C>A MANE Select | NP_001157413.1:p.Thr131Asn |