Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35312466C>T , CM000668.2:g.35312466C>T | GRCh38 |
| NC_000006.11:g.35280243C>T , CM000668.1:g.35280243C>T | GRCh37 |
| NC_000006.10:g.35388221C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444278.3:c.477C>T | ENSP00000415357.3:p.Gly159= | |
| ENST00000698929.1:c.423+1822C>T | ENSP00000514040.1:n.423+1822C>T | |
| ENST00000698930.1:c.*235C>T | ENSP00000514041.1:n.*235C>T | |
| ENST00000698931.1:n.612C>T | ||
| ENST00000316637.7:c.588C>T MANE Select | ENSP00000319831.5:p.Gly196= | |
| ENST00000316637.6:c.588C>T | ENSP00000319831.5:p.Gly196= | |
| ENST00000444278.2:c.313C>T | ||
| NM_022047.3:c.588C>T | NP_071330.3:p.Gly196= | |
| NM_022047.4:c.588C>T MANE Select | NP_071330.3:p.Gly196= |