Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35320940G>C , CM000668.2:g.35320940G>C | GRCh38 |
| NC_000006.11:g.35288717G>C , CM000668.1:g.35288717G>C | GRCh37 |
| NC_000006.10:g.35396695G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022047.4:c.1638G>C MANE Select | NP_071330.3:p.Gln546His |
| ENST00000316637.7:c.1638G>C MANE Select | ENSP00000319831.5:p.Gln546His |
| NM_022047.3:c.1638G>C | NP_071330.3:p.Gln546His |
| ENST00000316637.6:c.1638G>C | ENSP00000319831.5:p.Gln546His |
| ENST00000444278.3:c.1527G>C | ENSP00000415357.3:p.Gln509His |
| ENST00000468102.2:n.2618G>C | |
| ENST00000698929.1:c.*924G>C | ENSP00000514040.1:n.*924G>C |
| ENST00000698930.1:c.*1285G>C | ENSP00000514041.1:n.*1285G>C |