gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44589312G>A , CM000677.2:g.44589312G>A | GRCh38 |
| NC_000015.9:g.44881510G>A , CM000677.1:g.44881510G>A | GRCh37 |
| NC_000015.8:g.42668802G>A | NCBI36 |
| NG_008885.1:g.79367C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.4846C>T | ENSP00000453246.2:p.Gln1616Ter | |
| ENST00000561391.2:n.1074C>T | ||
| ENST00000682065.1:c.4846C>T | ENSP00000507025.1:p.Gln1616Ter | |
| ENST00000682460.1:c.*1163+3019C>T | ENSP00000508334.1:n.*1163+3019C>T | |
| ENST00000682495.1:c.*1338C>T | ENSP00000507166.1:n.*1338C>T | |
| ENST00000682669.1:c.4645C>T | ENSP00000507782.1:p.Gln1549Ter | |
| ENST00000682788.1:c.4846C>T | ENSP00000508089.1:p.Gln1616Ter | |
| ENST00000683121.1:c.*189C>T | ENSP00000507557.1:n.*189C>T | |
| ENST00000683186.1:c.*1609C>T | ENSP00000507268.1:n.*1609C>T | |
| ENST00000683496.1:c.4846C>T | ENSP00000506968.1:p.Gln1616Ter | |
| ENST00000683734.1:c.4846C>T | ENSP00000508319.1:p.Gln1616Ter | |
| ENST00000683753.1:n.3892C>T | ||
| ENST00000684038.1:c.*1266C>T | ENSP00000507141.1:n.*1266C>T | |
| ENST00000684235.1:c.4846C>T | ENSP00000508295.1:p.Gln1616Ter | |
| ENST00000684676.1:c.4846C>T | ENSP00000506948.1:p.Gln1616Ter | |
| ENST00000261866.12:c.4846C>T MANE Select | ENSP00000261866.7:p.Gln1616Ter | |
| ENST00000261866.11:c.4846C>T | ENSP00000261866.7:p.Gln1616Ter | |
| ENST00000427534.6:c.4846C>T | ENSP00000396110.2:p.Gln1616Ter | |
| ENST00000535302.6:c.4846C>T | ENSP00000445278.2:p.Gln1616Ter | |
| ENST00000558155.1:c.498C>T | ENSP00000453238.1:n.498C>T | |
| ENST00000558253.5:n.620C>T | ||
| ENST00000558319.5:c.4846C>T | ENSP00000453599.1:p.Gln1616Ter | |
| ENST00000558790.5:n.211C>T | ||
| ENST00000560858.1:c.226C>T | ENSP00000452991.1:p.Gln76Ter | |
| NM_001160227.1:c.4846C>T | NP_001153699.1:p.Gln1616Ter | |
| NM_025137.3:c.4846C>T | NP_079413.3:p.Gln1616Ter | |
| XM_005254695.3:c.4588C>T | XP_005254752.1:p.Gln1530Ter | |
| XM_006720700.1:c.4846C>T | XP_006720763.1:p.Gln1616Ter | |
| XM_006720701.2:c.4743+3019C>T | XP_006720764.1:n.4743+3019C>T | |
| XM_006720701.3:c.4743+3019C>T | XP_006720764.1:n.4743+3019C>T | |
| XM_017022634.1:c.4846C>T | XP_016878123.1:p.Gln1616Ter | |
| XM_017022636.1:c.1723C>T | XP_016878125.1:p.Gln575Ter | |
| XR_931917.2:n.4900C>T | ||
| NM_025137.4:c.4846C>T MANE Select | NP_079413.3:p.Gln1616Ter | |
| NM_001160227.2:c.4846C>T | NP_001153699.1:p.Gln1616Ter |