Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100662335G>A , CM000685.2:g.100662335G>A | GRCh38 |
| NC_000023.10:g.99917332G>A , CM000685.1:g.99917332G>A | GRCh37 |
| NC_000023.9:g.99803988G>A | NCBI36 |
| NG_021337.1:g.23170G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014467.3:c.323G>A MANE Select | NP_055282.1:p.Ser108Asn |
| ENST00000373004.5:c.323G>A MANE Select | ENSP00000362095.3:p.Ser108Asn |
| NM_014467.2:c.323G>A | NP_055282.1:p.Ser108Asn |
| ENST00000373004.3:c.323G>A | ENSP00000362095.3:p.Ser108Asn |
| ENST00000638319.1:n.311G>A | |
| ENST00000638458.1:c.347G>A | ENSP00000492168.1:p.Ser116Asn |
| ENST00000638920.1:n.326G>A | |
| ENST00000640889.1:c.323G>A | ENSP00000492571.1:p.Ser108Asn |
| ENST00000677630.1:n.257G>A | |
| ENST00000679590.1:n.356G>A | |
| XM_005262121.2:c.323G>A | XP_005262178.1:p.Ser108Asn |