Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.109782884C>T , CM000675.2:g.109782884C>T | GRCh38 |
| NC_000013.10:g.110435231C>T , CM000675.1:g.110435231C>T | GRCh37 |
| NC_000013.9:g.109233232C>T | NCBI36 |
| NG_008154.1:g.8684G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003749.3:c.3170G>A MANE Select | NP_003740.2:p.Gly1057Asp |
| ENST00000375856.5:c.3170G>A MANE Select | ENSP00000365016.3:p.Gly1057Asp |
| NM_003749.2:c.3170G>A | NP_003740.2:p.Gly1057Asp |
| ENST00000375856.4:c.3170G>A | ENSP00000365016.3:p.Gly1057Asp |