gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001773 (EAS)
Exomes Max Group AF
0.00002003 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75762710G>A , CM000679.2:g.75762710G>A | GRCh38 |
| NC_000017.10:g.73758791G>A , CM000679.1:g.73758791G>A | GRCh37 |
| NC_000017.9:g.71270386G>A | NCBI36 |
| NG_008079.1:g.7490C>T | |
| NG_008079.2:g.7490C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587707.2:c.819C>T | ENSP00000468341.2:n.819C>T | |
| ENST00000592997.6:c.697C>T | ENSP00000464765.2:p.Leu233= | |
| ENST00000588479.6:c.787C>T MANE Select | ENSP00000465930.1:p.Leu263= | |
| ENST00000225614.6:c.787C>T | ENSP00000225614.1:p.Leu263= | |
| ENST00000587707.1:c.573C>T | ENSP00000468341.1:n.573C>T | |
| ENST00000588479.5:c.787C>T | ENSP00000465930.1:p.Leu263= | |
| ENST00000592494.1:n.1106C>T | ||
| ENST00000592997.5:c.163C>T | ENSP00000464765.1:p.Leu55= | |
| NM_000154.1:c.787C>T | NP_000145.1:p.Leu263= | |
| NM_000154.2:c.787C>T MANE Select | NP_000145.1:p.Leu263= | |
| NM_001381985.1:c.787C>T | NP_001368914.1:p.Leu263= |