Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.2140873C>A , CM000670.2:g.2140873C>A | GRCh38 |
| NC_000008.9:g.2076203C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003970.4:c.3951C>A MANE Select | NP_003961.3:p.Asp1317Glu |
| ENST00000262113.9:c.3951C>A MANE Select | ENSP00000262113.4:p.Asp1317Glu |
| NM_003970.3:c.3951C>A | NP_003961.3:p.Asp1317Glu |
| ENST00000262113.8:c.3951C>A | ENSP00000262113.4:p.Asp1317Glu |
| ENST00000520298.5:n.131C>A | |
| ENST00000520779.1:n.25C>A | |
| ENST00000523438.1:c.2226C>A | ENSP00000428396.1:p.Asp742Glu |
| ENST00000612167.4:n.404C>A | |
| ENST00000621894.4:n.342C>A | |
| XM_006716237.1:c.3951C>A | XP_006716300.1:p.Asp1317Glu |