Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.917735A>G , CM000681.2:g.917735A>G | GRCh38 |
| NC_000019.9:g.917735A>G , CM000681.1:g.917735A>G | GRCh37 |
| NC_000019.8:g.868735A>G | NCBI36 |
| NG_008277.1:g.5394A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032551.5:c.233A>G MANE Select | NP_115940.2:p.Asn78Ser |
| ENST00000234371.10:c.233A>G MANE Select | ENSP00000234371.3:p.Asn78Ser |
| NM_032551.4:c.233A>G | NP_115940.2:p.Asn78Ser |
| ENST00000234371.9:c.233A>G | ENSP00000234371.3:p.Asn78Ser |
| ENST00000592648.1:c.233A>G | ENSP00000467666.1:p.Asn78Ser |
| ENST00000606939.2:c.233A>G | ENSP00000475639.1:p.Asn78Ser |
| XM_017027382.1:c.233A>G | XP_016882871.1:p.Asn78Ser |