Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780562T>A , CM000672.2:g.94780562T>A | GRCh38 |
| NC_000010.10:g.96540319T>A , CM000672.1:g.96540319T>A | GRCh37 |
| NC_000010.9:g.96530309T>A | NCBI36 |
| NG_008384.2:g.22857T>A | |
| NG_008384.3:g.22882T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000769.4:c.545T>A MANE Select | NP_000760.1:p.Ile182Asn |
| ENST00000371321.9:c.545T>A MANE Select | ENSP00000360372.3:p.Ile182Asn |
| NM_000769.2:c.545T>A | NP_000760.1:p.Ile182Asn |
| ENST00000371321.7:c.545T>A | ENSP00000360372.3:p.Ile182Asn |
| ENST00000464755.1:c.1308T>A | ENSP00000483243.1:n.1308T>A |
| ENST00000645461.1:n.1598T>A |