Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25010274C>G , CM000685.2:g.25010274C>G | GRCh38 |
| NC_000023.10:g.25028391C>G , CM000685.1:g.25028391C>G | GRCh37 |
| NC_000023.9:g.24938312C>G | NCBI36 |
| NG_008281.1:g.10675G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139058.3:c.1105G>C MANE Select | NP_620689.1:p.Glu369Gln |
| ENST00000379044.5:c.1105G>C MANE Select | ENSP00000368332.4:p.Glu369Gln |
| NM_139058.2:c.1105G>C | NP_620689.1:p.Glu369Gln |
| ENST00000379044.4:c.1105G>C | ENSP00000368332.4:p.Glu369Gln |