Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.20643261C= , CM000669.2:g.20643261C= | GRCh38 |
| NC_000007.13:g.20682884C= , CM000669.1:g.20682884C= | GRCh37 |
| NC_000007.12:g.20649409C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001163941.2:c.392C= MANE Select | NP_001157413.1:p.Thr131= |
| ENST00000404938.7:c.392C= MANE Select | ENSP00000384881.2:p.Thr131= |
| NM_001163941.1:c.392C= | NP_001157413.1:p.Thr131= |
| ENST00000404938.6:c.392C= | ENSP00000384881.2:p.Thr131= |