Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48474619G= , CM000677.2:g.48474619G= | GRCh38 |
| NC_000015.9:g.48766816G= , CM000677.1:g.48766816G= | GRCh37 |
| NC_000015.8:g.46554108G= | NCBI36 |
| NG_008805.2:g.176170C= , LRG_778:g.176170C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3996C= | ENSP00000453958.2:p.Asn1332= | |
| ENST00000674301.2:c.3996C= | ENSP00000501333.2:p.Asn1332= | |
| ENST00000684448.1:n.2670C= | ||
| ENST00000316623.10:c.3996C= MANE Select | ENSP00000325527.5:p.Asn1332= | |
| ENST00000316623.9:c.3996C= | ENSP00000325527.5:p.Asn1332= | |
| ENST00000537463.6:c.668C= | ENSP00000440294.2:p.Thr223= | |
| NM_000138.4:c.3996C= , LRG_778t1:c.3996C= | NP_000129.3:p.Asn1332= | |
| NM_000138.5:c.3996C= MANE Select | NP_000129.3:p.Asn1332= |