Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.51699349C>A , CM000677.2:g.51699349C>A | GRCh38 |
| NC_000015.9:g.51991546C>A , CM000677.1:g.51991546C>A | GRCh37 |
| NC_000015.8:g.49778838C>A | NCBI36 |
| NG_013214.1:g.22997C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013243.4:c.1016C>A MANE Select | NP_037375.2:p.Thr339Asn |
| ENST00000220478.8:c.1016C>A MANE Select | ENSP00000220478.3:p.Thr339Asn |
| NM_001165257.1:c.320C>A | NP_001158729.1:p.Thr107Asn |
| NM_001165257.2:c.320C>A | NP_001158729.1:p.Thr107Asn |
| NM_013243.3:c.1016C>A | NP_037375.2:p.Thr339Asn |
| ENST00000220478.7:c.1016C>A | ENSP00000220478.3:p.Thr339Asn |
| ENST00000542355.6:c.320C>A | ENSP00000445205.2:p.Thr107Asn |
| XR_932238.1:n.1183-383G>T | |
| XR_932239.1:n.790-383G>T |