gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.1844466G>A , CM000674.2:g.1844466G>A | GRCh38 |
| NC_000012.11:g.1953632G>A , CM000674.1:g.1953632G>A | GRCh37 |
| NC_000012.10:g.1823893G>A | NCBI36 |
| NG_012663.1:g.79239C>T | |
| NG_012663.2:g.79239C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382722.10:c.2406C>T MANE Select | ENSP00000372169.4:p.Tyr802= | |
| ENST00000280663.12:n.2599C>T | ||
| ENST00000382722.9:c.2406C>T | ENSP00000372169.4:p.Tyr802= | |
| ENST00000444595.6:c.*652C>T | ENSP00000403371.2:n.*652C>T | |
| ENST00000537784.5:c.247C>T | ||
| ENST00000539048.2:n.458C>T | ||
| ENST00000585708.5:c.2214C>T | ENSP00000467697.1:p.Tyr738= | |
| ENST00000585732.1:c.1989C>T | ENSP00000468080.1:p.Tyr663= | |
| ENST00000586184.5:c.2406C>T | ENSP00000465060.1:p.Tyr802= | |
| ENST00000587995.5:c.2331C>T | ENSP00000465372.1:p.Tyr777= | |
| ENST00000588077.5:c.2214C>T | ENSP00000468530.1:p.Tyr738= | |
| NM_172364.4:c.2406C>T | NP_758952.4:p.Tyr802= | |
| XM_011521041.1:c.2343C>T | XP_011519343.1:p.Tyr781= | |
| XM_011521041.2:c.2343C>T | XP_011519343.1:p.Tyr781= | |
| NM_172364.5:c.2406C>T MANE Select | NP_758952.4:p.Tyr802= |