Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787567G= , CM000681.2:g.18787567G= | GRCh38 |
| NC_000019.9:g.18898376G= , CM000681.1:g.18898376G= | GRCh37 |
| NC_000019.8:g.18759376G= | NCBI36 |
| NG_007070.1:g.8739C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1059C= MANE Select | ENSP00000222271.2:p.Ser353= | |
| ENST00000222271.6:c.1059C= | ENSP00000222271.2:p.Ser353= | |
| ENST00000425807.1:c.900C= | ENSP00000403792.1:p.Ser300= | |
| ENST00000542601.6:c.960C= | ENSP00000439156.2:p.Ser320= | |
| NM_000095.2:c.1059C= | NP_000086.2:p.Ser353= | |
| NM_000095.3:c.1059C= MANE Select | NP_000086.2:p.Ser353= |