Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52236920A>G , CM000668.2:g.52236920A>G | GRCh38 |
| NC_000006.11:g.52101718A>G , CM000668.1:g.52101718A>G | GRCh37 |
| NC_000006.10:g.52209677A>G | NCBI36 |
| NG_031869.1:g.12581T>C , LRG_356:g.12581T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052872.4:c.*11T>C MANE Select | NP_443104.1:n.*11T>C |
| ENST00000336123.5:c.*11T>C MANE Select | ENSP00000337432.4:n.*11T>C |
| NM_052872.3:c.*11T>C , LRG_356t1:c.*11T>C | NP_443104.1:n.*11T>C |
| ENST00000336123.4:c.*11T>C | ENSP00000337432.4:n.*11T>C |
| ENST00000478427.1:n.687T>C | |
| ENST00000699946.1:c.*11T>C | ENSP00000514702.1:n.*11T>C |
| XM_011514276.1:c.*11T>C | XP_011512578.1:n.*11T>C |