Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29489649T>A , CM000684.2:g.29489649T>A | GRCh38 |
| NC_000022.10:g.29885638T>A , CM000684.1:g.29885638T>A | GRCh37 |
| NC_000022.9:g.28215638T>A | NCBI36 |
| NG_008404.1:g.14458T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021076.4:c.2009T>A MANE Select | NP_066554.2:p.Val670Glu |
| ENST00000310624.7:c.2009T>A MANE Select | ENSP00000311997.6:p.Val670Glu |
| NM_021076.3:c.2009T>A | NP_066554.2:p.Val670Glu |
| ENST00000310624.6:c.2009T>A | ENSP00000311997.6:p.Val670Glu |
| XM_011530200.1:c.1721T>A | XP_011528502.1:p.Val574Glu |
| XM_011530200.2:c.1721T>A | XP_011528502.1:p.Val574Glu |