Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97432441A>C , CM000672.2:g.97432441A>C | GRCh38 |
| NC_000010.10:g.99192198A>C , CM000672.1:g.99192198A>C | GRCh37 |
| NC_000010.9:g.99182188A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002629.4:c.682A>C MANE Select | NP_002620.1:p.Lys228Gln |
| ENST00000334828.6:c.682A>C MANE Select | ENSP00000359991.4:p.Lys228Gln |
| NM_001317079.1:c.637A>C | NP_001304008.1:p.Lys213Gln |
| NM_001317079.2:c.637A>C | NP_001304008.1:p.Lys213Gln |
| NM_002629.2:c.682A>C | NP_002620.1:p.Lys228Gln |
| NM_002629.3:c.682A>C | NP_002620.1:p.Lys228Gln |
| ENST00000334828.5:c.682A>C | ENSP00000359991.4:p.Lys228Gln |
| ENST00000467867.1:n.938A>C |