Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.89350775G>A , CM000674.2:g.89350775G>A | GRCh38 |
| NC_000012.11:g.89744552G>A , CM000674.1:g.89744552G>A | GRCh37 |
| NC_000012.10:g.88268683G>A | NCBI36 |
| NG_033915.1:g.7085C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279488.8:c.651C>T MANE Select | ENSP00000279488.6:p.Gly217= | |
| ENST00000279488.7:c.651C>T | ENSP00000279488.6:p.Gly217= | |
| ENST00000308385.6:c.400+865C>T | ENSP00000307835.6:n.400+865C>T | |
| ENST00000547140.1:n.337C>T | ||
| ENST00000547291.1:c.276C>T | ENSP00000449838.1:p.Gly92= | |
| NM_001946.3:c.651C>T | NP_001937.2:p.Gly217= | |
| NM_022652.3:c.400+865C>T | NP_073143.2:n.400+865C>T | |
| NM_001946.4:c.651C>T MANE Select | NP_001937.2:p.Gly217= | |
| NM_022652.4:c.400+865C>T | NP_073143.2:n.400+865C>T |