Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764169G= , CM000674.2:g.57764169G= | GRCh38 |
| NC_000012.11:g.58157952G= , CM000674.1:g.58157952G= | GRCh37 |
| NC_000012.10:g.56444219G= | NCBI36 |
| NG_007076.1:g.8025C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000785.4:c.1144C= MANE Select | NP_000776.1:p.Pro382= |
| ENST00000228606.9:c.1144C= MANE Select | ENSP00000228606.4:p.Pro382= |
| NM_000785.3:c.1144C= | NP_000776.1:p.Pro382= |
| ENST00000228606.8:c.1144C= | ENSP00000228606.4:p.Pro382= |
| ENST00000546567.5:c.439C= | ENSP00000449472.1:p.Pro147= |
| ENST00000547344.5:n.1283C= | |
| ENST00000713544.1:c.1225C= | ENSP00000518840.1:p.Pro409= |
| ENST00000713545.1:c.*149C= | ENSP00000518841.1:n.*149C= |