Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35312451C>G , CM000668.2:g.35312451C>G | GRCh38 |
| NC_000006.11:g.35280228C>G , CM000668.1:g.35280228C>G | GRCh37 |
| NC_000006.10:g.35388206C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444278.3:c.462C>G | ENSP00000415357.3:p.Gly154= | |
| ENST00000698929.1:c.423+1807C>G | ENSP00000514040.1:n.423+1807C>G | |
| ENST00000698930.1:c.*220C>G | ENSP00000514041.1:n.*220C>G | |
| ENST00000698931.1:n.597C>G | ||
| ENST00000316637.7:c.573C>G MANE Select | ENSP00000319831.5:p.Gly191= | |
| ENST00000316637.6:c.573C>G | ENSP00000319831.5:p.Gly191= | |
| ENST00000444278.2:c.298C>G | ||
| NM_022047.3:c.573C>G | NP_071330.3:p.Gly191= | |
| NM_022047.4:c.573C>G MANE Select | NP_071330.3:p.Gly191= |