Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100665582G>C , CM000685.2:g.100665582G>C | GRCh38 |
| NC_000023.10:g.99920579G>C , CM000685.1:g.99920579G>C | GRCh37 |
| NC_000023.9:g.99807235G>C | NCBI36 |
| NG_021337.1:g.26417G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014467.3:c.706G>C MANE Select | NP_055282.1:p.Glu236Gln |
| ENST00000373004.5:c.706G>C MANE Select | ENSP00000362095.3:p.Glu236Gln |
| NM_014467.2:c.706G>C | NP_055282.1:p.Glu236Gln |
| ENST00000373004.3:c.706G>C | ENSP00000362095.3:p.Glu236Gln |
| ENST00000638458.1:c.730G>C | ENSP00000492168.1:p.Glu244Gln |
| ENST00000638920.1:n.709G>C | |
| ENST00000677630.1:n.640G>C | |
| ENST00000679590.1:n.739G>C | |
| XM_005262121.2:c.706G>C | XP_005262178.1:p.Glu236Gln |