gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32434579C>T , CM000682.2:g.32434579C>T | GRCh38 |
| NC_000020.10:g.31022382C>T , CM000682.1:g.31022382C>T | GRCh37 |
| NC_000020.9:g.30486043C>T | NCBI36 |
| NG_027868.1:g.81236C>T , LRG_630:g.81236C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.1867C>T MANE Select | ENSP00000364839.4:p.Gln623Ter | |
| ENST00000644168.1:n.1409C>T | ||
| ENST00000646985.1:c.1684C>T | ENSP00000495053.1:p.Gln562Ter | |
| ENST00000647223.1:n.4220C>T | ||
| ENST00000651418.1:c.1867C>T | ENSP00000499150.1:p.Gln623Ter | |
| ENST00000306058.9:c.1852C>T | ENSP00000305119.5:p.Gln618Ter | |
| ENST00000375687.8:c.1867C>T | ENSP00000364839.4:p.Gln623Ter | |
| ENST00000613218.4:c.1867C>T | ENSP00000480487.1:p.Gln623Ter | |
| ENST00000620121.4:c.1867C>T | ENSP00000481978.1:p.Gln623Ter | |
| NM_015338.5:c.1867C>T , LRG_630t1:c.1867C>T | NP_056153.2:p.Gln623Ter | |
| XM_006723727.2:c.1864C>T | XP_006723790.1:p.Gln622Ter | |
| XM_006723728.2:c.1837C>T | XP_006723791.1:p.Gln613Ter | |
| XM_006723730.2:c.1783C>T | XP_006723793.1:p.Gln595Ter | |
| XM_006723732.2:c.1684C>T | XP_006723795.1:p.Gln562Ter | |
| XM_006723733.1:c.1183C>T | XP_006723796.1:p.Gln395Ter | |
| XM_011528647.1:c.2131C>T | XP_011526949.1:p.Gln711Ter | |
| XM_011528648.1:c.2128C>T | XP_011526950.1:p.Gln710Ter | |
| XM_011528649.1:c.2047C>T | XP_011526951.1:p.Gln683Ter | |
| XM_011528650.1:c.1978C>T | XP_011526952.1:p.Gln660Ter | |
| XM_011528651.1:c.1846C>T | XP_011526953.1:p.Gln616Ter | |
| XM_011528652.1:c.1783C>T | XP_011526954.1:p.Gln595Ter | |
| NM_001363734.1:c.1684C>T | NP_001350663.1:p.Gln562Ter | |
| XM_006723727.3:c.1864C>T | XP_006723790.1:p.Gln622Ter | |
| XM_006723728.3:c.1837C>T | XP_006723791.1:p.Gln613Ter | |
| XM_006723730.4:c.1783C>T | XP_006723793.1:p.Gln595Ter | |
| XM_011528648.3:c.2128C>T | XP_011526950.1:p.Gln710Ter | |
| XM_011528652.2:c.1783C>T | XP_011526954.1:p.Gln595Ter | |
| XM_017027704.1:c.1783C>T | XP_016883193.1:p.Gln595Ter | |
| XM_017027705.1:c.1783C>T | XP_016883194.1:p.Gln595Ter | |
| XM_017027706.1:c.1714C>T | XP_016883195.1:p.Gln572Ter | |
| NM_015338.6:c.1867C>T MANE Select | NP_056153.2:p.Gln623Ter |