Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52239311C>A , CM000668.2:g.52239311C>A | GRCh38 |
| NC_000006.11:g.52104109C>A , CM000668.1:g.52104109C>A | GRCh37 |
| NC_000006.10:g.52212068C>A | NCBI36 |
| NG_031869.1:g.10190G>T , LRG_356:g.10190G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052872.4:c.34-361G>T MANE Select | NP_443104.1:n.34-361G>T |
| ENST00000336123.5:c.34-361G>T MANE Select | ENSP00000337432.4:n.34-361G>T |
| NM_052872.3:c.34-361G>T , LRG_356t1:c.34-361G>T | NP_443104.1:n.34-361G>T |
| ENST00000336123.4:c.34-361G>T | ENSP00000337432.4:n.34-361G>T |
| ENST00000699946.1:c.34-361G>T | ENSP00000514702.1:n.34-361G>T |
| XM_011514276.1:c.34-361G>T | XP_011512578.1:n.34-361G>T |