Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14132577G>C , CM000665.2:g.14132577G>C | GRCh38 |
| NC_000003.11:g.14174077G>C , CM000665.1:g.14174077G>C | GRCh37 |
| NC_000003.10:g.14149078G>C | NCBI36 |
| NG_008975.1:g.12638G>C , LRG_435:g.12638G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024334.3:c.424G>C MANE Select | NP_077310.1:p.Glu142Gln |
| ENST00000306077.5:c.424G>C MANE Select | ENSP00000303992.5:p.Glu142Gln |
| NM_024334.2:c.424G>C , LRG_435t1:c.424G>C | NP_077310.1:p.Glu142Gln |
| ENST00000306077.4:c.424G>C | ENSP00000303992.4:p.Glu142Gln |
| ENST00000432444.1:c.*454G>C | ENSP00000395617.1:n.*454G>C |
| ENST00000432444.2:c.*454G>C | ENSP00000395617.1:n.*454G>C |
| XM_011534109.1:c.319G>C | XP_011532411.1:p.Glu107Gln |
| XM_017007176.2:c.319G>C | XP_016862665.1:p.Glu107Gln |