Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524754A>C , CM000680.2:g.31524754A>C | GRCh38 |
| NC_000018.9:g.29104717A>C , CM000680.1:g.29104717A>C | GRCh37 |
| NC_000018.8:g.27358715A>C | NCBI36 |
| NG_007072.3:g.31513A>C , LRG_397:g.31513A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001943.5:c.880A>C MANE Select | NP_001934.2:p.Lys294Gln |
| ENST00000261590.13:c.880A>C MANE Select | ENSP00000261590.8:p.Lys294Gln |
| NM_001943.3:c.880A>C , LRG_397t1:c.880A>C | NP_001934.2:p.Lys294Gln |
| NM_001943.4:c.880A>C | NP_001934.2:p.Lys294Gln |
| ENST00000261590.12:c.880A>C | ENSP00000261590.8:p.Lys294Gln |
| ENST00000682087.1:c.711A>C | |
| ENST00000682087.2:n.711A>C | |
| ENST00000683614.1:c.711A>C | |
| ENST00000683614.2:n.711A>C | |
| XM_024451095.1:c.346A>C | XP_024306863.1:p.Lys116Gln |