Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133636662C>T , CM000671.2:g.133636662C>T | GRCh38 |
| NC_000009.11:g.136501784C>T , CM000671.1:g.136501784C>T | GRCh37 |
| NC_000009.10:g.135491605C>T | NCBI36 |
| NG_008645.1:g.5300C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000787.4:c.291C>T MANE Select | NP_000778.3:p.Asn97= |
| ENST00000393056.8:c.291C>T MANE Select | ENSP00000376776.2:p.Asn97= |
| NM_000787.3:c.291C>T | NP_000778.3:p.Asn97= |
| ENST00000263611.2:c.249C>T | ENSP00000263611.2:p.Asn83= |
| ENST00000263611.3:c.285C>T | ENSP00000263611.3:p.Asn95= |
| ENST00000393056.6:c.291C>T | ENSP00000376776.2:p.Asn97= |