Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2283244G>T , CM000678.2:g.2283244G>T | GRCh38 |
| NC_000016.9:g.2333245G>T , CM000678.1:g.2333245G>T | GRCh37 |
| NC_000016.8:g.2273246G>T | NCBI36 |
| NG_011790.1:g.62503C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.3977C>A MANE Select | NP_001080.2:p.Thr1326Asn |
| ENST00000301732.10:c.3977C>A MANE Select | ENSP00000301732.5:p.Thr1326Asn |
| NM_001089.2:c.3977C>A | NP_001080.2:p.Thr1326Asn |
| ENST00000301732.9:c.3977C>A | ENSP00000301732.5:p.Thr1326Asn |
| ENST00000382381.7:c.3803C>A | ENSP00000371818.3:p.Thr1268Asn |
| ENST00000566200.1:n.498C>A | |
| ENST00000569062.1:n.729C>A |