Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47624401G= , CM000685.2:g.47624401G= | GRCh38 |
| NC_000023.10:g.47483800G= , CM000685.1:g.47483800G= | GRCh37 |
| NC_000023.9:g.47368744G= | NCBI36 |
| NG_008437.1:g.457C= | |
| NG_009893.1:g.10905C= , LRG_129:g.10905C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396992.8:c.1284C= MANE Select | ENSP00000380189.3:p.Asn428= | |
| ENST00000640573.1:n.1522C= | ||
| ENST00000247153.7:c.1284C= | ENSP00000247153.3:p.Asn428= | |
| ENST00000396992.7:c.1284C= | ENSP00000380189.3:p.Asn428= | |
| ENST00000478222.1:n.405C= | ||
| NM_001145252.1:c.1284C= | NP_001138724.1:p.Asn428= | |
| NM_002621.2:c.1284C= , LRG_129t1:c.1284C= | NP_002612.1:p.Asn428= | |
| XM_017029575.1:c.879C= | XP_016885064.1:p.Asn293= | |
| NM_001145252.3:c.1284C= MANE Select | NP_001138724.1:p.Asn428= |