Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119514623C>A , CM000663.2:g.119514623C>A | GRCh38 |
| NC_000001.10:g.120057246C>A , CM000663.1:g.120057246C>A | GRCh37 |
| NC_000001.9:g.119858769C>A | NCBI36 |
| NG_050909.1:g.12512C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000862.3:c.1100C>A MANE Select | NP_000853.1:p.Thr367Asn |
| ENST00000369413.8:c.1100C>A MANE Select | ENSP00000358421.3:p.Thr367Asn |
| NM_000862.2:c.1100C>A | NP_000853.1:p.Thr367Asn |
| NM_001328615.1:c.1100C>A | NP_001315544.1:p.Thr367Asn |
| ENST00000369413.7:c.1100C>A | ENSP00000358421.3:p.Thr367Asn |
| ENST00000528909.1:c.1100C>A | ENSP00000432268.1:p.Thr367Asn |
| XM_011541314.1:c.1106C>A | XP_011539616.1:p.Thr369Asn |