Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21772887C>T , CM000684.2:g.21772887C>T | GRCh38 |
| NC_000022.10:g.22127176C>T , CM000684.1:g.22127176C>T | GRCh37 |
| NC_000022.9:g.20457176C>T | NCBI36 |
| NG_023054.2:g.99794G>A , LRG_786:g.99794G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002745.5:c.952G>A MANE Select | NP_002736.3:p.Asp318Asn |
| ENST00000215832.11:c.952G>A MANE Select | ENSP00000215832.7:p.Asp318Asn |
| NM_002745.4:c.952G>A , LRG_786t1:c.952G>A | NP_002736.3:p.Asp318Asn |
| NM_138957.3:c.952G>A , LRG_786t2:c.952G>A | NP_620407.1:p.Asp318Asn |
| ENST00000215832.10:c.952G>A | ENSP00000215832.6:p.Asp318Asn |
| ENST00000398822.7:c.952G>A | ENSP00000381803.3:p.Asp318Asn |
| ENST00000544786.1:c.820G>A | ENSP00000440842.1:p.Asp274Asn |