Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128773786G= , CM000669.2:g.128773786G= | GRCh38 |
| NC_000007.13:g.128413840G= , CM000669.1:g.128413840G= | GRCh37 |
| NC_000007.12:g.128201076G= | NCBI36 |
| NG_009094.1:g.7005C= | |
| NG_033110.1:g.39495G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001385125.1:c.781C= MANE Select | NP_001372054.1:p.Pro261= |
| ENST00000249389.3:c.781C= MANE Select | ENSP00000249389.3:p.Pro261= |
| NM_001708.2:c.790C= | NP_001699.1:p.Pro264= |
| ENST00000249389.2:c.790C= | ENSP00000249389.2:p.Pro264= |