Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23404731C>T , CM000676.2:g.23404731C>T | GRCh38 |
| NC_000014.8:g.23873940C>T , CM000676.1:g.23873940C>T | GRCh37 |
| NC_000014.7:g.22943780C>T | NCBI36 |
| NG_023444.1:g.8547G>A , LRG_389:g.8547G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002471.4:c.622G>A MANE Select | NP_002462.2:p.Asp208Asn |
| ENST00000405093.9:c.622G>A MANE Select | ENSP00000386041.3:p.Asp208Asn |
| NM_002471.3:c.622G>A , LRG_389t1:c.622G>A | NP_002462.2:p.Asp208Asn |
| ENST00000356287.3:c.622G>A | ENSP00000348634.3:p.Asp208Asn |
| ENST00000405093.7:c.622G>A | ENSP00000386041.3:p.Asp208Asn |
| ENST00000557461.1:n.676G>A | |
| ENST00000557461.2:n.689G>A |