Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232541451C= , CM000664.2:g.232541451C= | GRCh38 |
| NC_000002.11:g.233406161C= , CM000664.1:g.233406161C= | GRCh37 |
| NC_000002.10:g.233114405C= | NCBI36 |
| NG_012954.1:g.6725C= | |
| NG_012954.2:g.6760C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005199.5:c.428C= MANE Select | NP_005190.4:p.Pro143= |
| ENST00000651502.1:c.428C= MANE Select | ENSP00000498757.1:p.Pro143= |
| NM_005199.4:c.428C= | NP_005190.4:p.Pro143= |
| ENST00000389492.3:c.350+740C= | ENSP00000374143.3:n.350+740C= |
| ENST00000389494.7:c.428C= | ENSP00000374145.3:p.Pro143= |
| ENST00000485094.1:n.449C= |