Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35312471G>A , CM000668.2:g.35312471G>A | GRCh38 |
| NC_000006.11:g.35280248G>A , CM000668.1:g.35280248G>A | GRCh37 |
| NC_000006.10:g.35388226G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444278.3:c.482G>A | ENSP00000415357.3:p.Gly161Asp | |
| ENST00000698929.1:c.423+1827G>A | ENSP00000514040.1:n.423+1827G>A | |
| ENST00000698930.1:c.*240G>A | ENSP00000514041.1:n.*240G>A | |
| ENST00000698931.1:n.617G>A | ||
| ENST00000316637.7:c.593G>A MANE Select | ENSP00000319831.5:p.Gly198Asp | |
| ENST00000316637.6:c.593G>A | ENSP00000319831.5:p.Gly198Asp | |
| ENST00000444278.2:c.318G>A | ||
| NM_022047.3:c.593G>A | NP_071330.3:p.Gly198Asp | |
| NM_022047.4:c.593G>A MANE Select | NP_071330.3:p.Gly198Asp |