Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6709317T>G , CM000666.2:g.6709317T>G | GRCh38 |
| NC_000004.11:g.6711044T>G , CM000666.1:g.6711044T>G | GRCh37 |
| NC_000004.10:g.6761945T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_203462.3:c.313A>C MANE Select | NP_982287.1:p.Lys105Gln |
| ENST00000320848.7:c.313A>C MANE Select | ENSP00000318154.6:p.Lys105Gln |
| NM_203462.2:c.313A>C | NP_982287.1:p.Lys105Gln |
| ENST00000320848.6:c.313A>C | ENSP00000318154.6:p.Lys105Gln |
| ENST00000500563.2:n.511A>C | |
| XM_005247932.1:c.313A>C | XP_005247989.1:p.Lys105Gln |
| XM_005247932.2:c.313A>C | XP_005247989.1:p.Lys105Gln |