Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38880348A>G , CM000675.2:g.38880348A>G | GRCh38 |
| NC_000013.10:g.39454485A>G , CM000675.1:g.39454485A>G | GRCh37 |
| NC_000013.9:g.38352485A>G | NCBI36 |
| NG_008125.2:g.198313A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207361.6:c.9071A>G MANE Select | NP_997244.4:p.Asn3024Ser |
| ENST00000280481.9:c.9071A>G MANE Select | ENSP00000280481.7:p.Asn3024Ser |
| NM_207361.5:c.9071A>G | NP_997244.4:p.Asn3024Ser |
| ENST00000280481.8:c.9071A>G | ENSP00000280481.7:p.Asn3024Ser |