Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104039613G>T , CM000672.2:g.104039613G>T | GRCh38 |
| NC_000010.10:g.105799371G>T , CM000672.1:g.105799371G>T | GRCh37 |
| NC_000010.9:g.105789361G>T | NCBI36 |
| NG_007069.1:g.51268C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.2816C>A MANE Select | NP_000485.3:p.Thr939Asn |
| ENST00000648076.2:c.2816C>A MANE Select | ENSP00000497653.1:p.Thr939Asn |
| NM_000494.3:c.2816C>A | NP_000485.3:p.Thr939Asn |
| ENST00000353479.9:c.2816C>A | ENSP00000340937.5:p.Thr939Asn |
| ENST00000369733.7:c.2762-492C>A | ENSP00000358748.3:n.2762-492C>A |
| ENST00000369733.8:c.2762-492C>A | ENSP00000358748.3:n.2762-492C>A |