Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133644249C= , CM000671.2:g.133644249C= | GRCh38 |
| NC_000009.11:g.136509371C= , CM000671.1:g.136509371C= | GRCh37 |
| NC_000009.10:g.135499192C= | NCBI36 |
| NG_008645.1:g.12887C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.953C= MANE Select | ENSP00000376776.2:p.Ala318= | |
| ENST00000393056.6:c.953C= | ENSP00000376776.2:p.Ala318= | |
| NM_000787.3:c.953C= | NP_000778.3:p.Ala318= | |
| NM_000787.4:c.953C= MANE Select | NP_000778.3:p.Ala318= |