Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47325244C>G , CM000672.2:g.47325244C>G | GRCh38 |
| NC_000010.10:g.48414118G>C , CM000672.1:g.48414118G>C | GRCh37 |
| NC_000010.9:g.48034124G>C | NCBI36 |
| NG_033916.1:g.7755C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581492.3:c.750C>G MANE Select | ENSP00000463051.1:p.Asn250Lys | |
| ENST00000581492.2:c.750C>G | ENSP00000463051.1:p.Asn250Lys | |
| NM_016204.2:c.750C>G | NP_057288.1:p.Asn250Lys | |
| XM_006717761.2:c.750C>G | XP_006717824.1:p.Asn250Lys | |
| NM_016204.3:c.750C>G | NP_057288.1:p.Asn250Lys | |
| NM_016204.4:c.750C>G MANE Select | NP_057288.1:p.Asn250Lys |