ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135765100C>T , CM000671.2:g.135765100C>T | GRCh38 |
| NC_000009.11:g.138656946C>T , CM000671.1:g.138656946C>T | GRCh37 |
| NC_000009.10:g.137796767C>T | NCBI36 |
| NG_033070.1:g.67916C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.1105C>T MANE Select | ENSP00000360822.2:p.Gln369Ter | |
| ENST00000674572.1:c.946C>T | ENSP00000501742.1:p.Gln316Ter | |
| ENST00000675090.1:c.853C>T | ENSP00000501833.1:p.Gln285Ter | |
| ENST00000675399.1:c.853C>T | ENSP00000501932.1:p.Gln285Ter | |
| ENST00000676421.1:c.862C>T | ENSP00000502322.1:p.Gln288Ter | |
| ENST00000263604.5:c.1006C>T | ENSP00000263604.4:p.Gln336Ter | |
| ENST00000371757.6:c.1105C>T | ENSP00000360822.2:p.Gln369Ter | |
| ENST00000460750.5:c.*715C>T | ENSP00000418777.1:n.*715C>T | |
| ENST00000486577.6:c.988C>T | ENSP00000417578.3:p.Gln330Ter | |
| ENST00000487664.5:c.1105C>T | ENSP00000417851.2:p.Gln369Ter | |
| ENST00000488444.6:c.1048C>T | ENSP00000419007.3:p.Gln350Ter | |
| ENST00000490355.6:c.1048C>T | ENSP00000418003.3:p.Gln350Ter | |
| ENST00000490363.3:n.924C>T | ||
| ENST00000491806.6:c.1048C>T | ENSP00000419086.3:p.Gln350Ter | |
| ENST00000628528.2:c.970C>T | ENSP00000486374.1:p.Gln324Ter | |
| ENST00000630792.2:c.946C>T | ENSP00000486486.1:p.Gln316Ter | |
| ENST00000631073.2:c.1048C>T | ENSP00000486130.1:p.Gln350Ter | |
| NM_001272003.1:c.970C>T | NP_001258932.1:p.Gln324Ter | |
| NM_020822.2:c.1105C>T | NP_065873.2:p.Gln369Ter | |
| XM_011518877.1:c.1240C>T | XP_011517179.1:p.Gln414Ter | |
| XM_011518878.1:c.1249C>T | XP_011517180.1:p.Gln417Ter | |
| XM_011518879.1:c.1240C>T | XP_011517181.1:p.Gln414Ter | |
| XM_011518880.1:c.1006C>T | XP_011517182.1:p.Gln336Ter | |
| XM_011518881.1:c.595C>T | XP_011517183.1:p.Gln199Ter | |
| XM_011518877.3:c.1240C>T | XP_011517179.1:p.Gln414Ter | |
| XM_011518878.3:c.1249C>T | XP_011517180.1:p.Gln417Ter | |
| XM_011518879.3:c.1240C>T | XP_011517181.1:p.Gln414Ter | |
| XM_011518881.3:c.595C>T | XP_011517183.1:p.Gln199Ter | |
| XM_017014931.1:c.1039C>T | XP_016870420.1:p.Gln347Ter | |
| XM_017014932.1:c.862C>T | XP_016870421.1:p.Gln288Ter | |
| XM_017014933.1:c.595C>T | XP_016870422.1:p.Gln199Ter | |
| XM_024447617.1:c.595C>T | XP_024303385.1:p.Gln199Ter | |
| XM_024447618.1:c.595C>T | XP_024303386.1:p.Gln199Ter | |
| NM_020822.3:c.1105C>T MANE Select | NP_065873.2:p.Gln369Ter | |
| NM_001272003.2:c.970C>T | NP_001258932.1:p.Gln324Ter |