Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013253C>G , CM000685.2:g.25013253C>G | GRCh38 |
| NC_000023.10:g.25031370C>G , CM000685.1:g.25031370C>G | GRCh37 |
| NC_000023.9:g.24941291C>G | NCBI36 |
| NG_008281.1:g.7696G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.742G>C MANE Select | ENSP00000368332.4:p.Glu248Gln | |
| ENST00000379044.4:c.742G>C | ENSP00000368332.4:p.Glu248Gln | |
| NM_139058.2:c.742G>C | NP_620689.1:p.Glu248Gln | |
| NM_139058.3:c.742G>C MANE Select | NP_620689.1:p.Glu248Gln |