Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46132103G>A , CM000683.2:g.46132103G>A | GRCh38 |
| NC_000021.8:g.47552017G>A , CM000683.1:g.47552017G>A | GRCh37 |
| NC_000021.7:g.46376445G>A | NCBI36 |
| NG_008675.1:g.38985G>A , LRG_476:g.38985G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001849.4:c.2611G>A MANE Select | NP_001840.3:p.Asp871Asn |
| ENST00000300527.9:c.2611G>A MANE Select | ENSP00000300527.4:p.Asp871Asn |
| NM_001849.3:c.2611G>A , LRG_476t1:c.2611G>A | NP_001840.3:p.Asp871Asn |
| ENST00000300527.8:c.2611G>A | ENSP00000300527.4:p.Asp871Asn |
| XM_011529451.1:c.2611G>A | XP_011527753.1:p.Asp871Asn |
| XM_011529452.1:c.2611G>A | XP_011527754.1:p.Asp871Asn |
| XR_937438.1:n.2688G>A | |
| XR_937438.2:n.2695G>A |