gnomAD v2:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.150659664C>T , CM000685.2:g.150659664C>T | GRCh38 |
| NC_000023.10:g.149828137C>T , CM000685.1:g.149828137C>T | GRCh37 |
| NC_000023.9:g.149578795C>T | NCBI36 |
| NG_008199.1:g.96091C>T , LRG_839:g.96091C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684910.1:c.*794C>T | ENSP00000509844.1:n.*794C>T | |
| ENST00000685439.1:c.916C>T | ENSP00000508454.1:p.Arg306Ter | |
| ENST00000685944.1:c.1261C>T | ENSP00000509266.1:p.Arg421Ter | |
| ENST00000686212.1:n.863C>T | ||
| ENST00000687215.1:c.*1016C>T | ENSP00000509706.1:n.*1016C>T | |
| ENST00000688152.1:c.*705C>T | ENSP00000509360.1:n.*705C>T | |
| ENST00000688403.1:c.517C>T | ENSP00000508944.1:p.Arg173Ter | |
| ENST00000689314.1:c.1306C>T | ENSP00000510607.1:p.Arg436Ter | |
| ENST00000689694.1:c.1261C>T | ENSP00000508718.1:p.Arg421Ter | |
| ENST00000689810.1:c.*910C>T | ENSP00000510635.1:n.*910C>T | |
| ENST00000690282.1:c.517C>T | ENSP00000509809.1:p.Arg173Ter | |
| ENST00000690351.1:c.*913C>T | ENSP00000509728.1:n.*913C>T | |
| ENST00000691232.1:c.916C>T | ENSP00000509675.1:p.Arg306Ter | |
| ENST00000691482.1:n.2276C>T | ||
| ENST00000691686.1:c.1261-707C>T | ENSP00000509784.1:n.1261-707C>T | |
| ENST00000691851.1:c.1053+9763C>T | ENSP00000510106.1:n.1053+9763C>T | |
| ENST00000692015.1:c.1048C>T | ENSP00000510634.1:p.Arg350Ter | |
| ENST00000692638.1:c.*1066-7C>T | ENSP00000509412.1:n.*1066-7C>T | |
| ENST00000692852.1:c.1072C>T | ENSP00000510337.1:p.Arg358Ter | |
| ENST00000692915.1:c.*1407C>T | ENSP00000508547.1:n.*1407C>T | |
| ENST00000370396.7:c.1261C>T MANE Select | ENSP00000359423.3:p.Arg421Ter | |
| ENST00000306167.11:n.1128C>T | ||
| ENST00000370396.6:c.1261C>T | ENSP00000359423.2:p.Arg421Ter | |
| NM_000252.2:c.1261C>T , LRG_839t1:c.1261C>T | NP_000243.1:p.Arg421Ter | |
| XM_005274687.2:c.1261C>T | XP_005274744.1:p.Arg421Ter | |
| XM_011531170.1:c.1327C>T | XP_011529472.1:p.Arg443Ter | |
| XM_011531171.1:c.1306C>T | XP_011529473.1:p.Arg436Ter | |
| XM_011531172.1:c.1306C>T | XP_011529474.1:p.Arg436Ter | |
| XM_011531173.1:c.1261C>T | XP_011529475.1:p.Arg421Ter | |
| XM_011531173.2:c.1261C>T | XP_011529475.1:p.Arg421Ter | |
| XM_017029547.1:c.1306C>T | XP_016885036.1:p.Arg436Ter | |
| XM_017029548.1:c.1306C>T | XP_016885037.1:p.Arg436Ter | |
| XM_017029549.1:c.1261C>T | XP_016885038.1:p.Arg421Ter | |
| XM_017029550.1:c.1150C>T | XP_016885039.1:p.Arg384Ter | |
| XM_017029551.2:c.517C>T | XP_016885040.1:p.Arg173Ter | |
| NM_000252.3:c.1261C>T MANE Select | NP_000243.1:p.Arg421Ter | |
| NM_001376906.1:c.1261C>T | NP_001363835.1:p.Arg421Ter | |
| NM_001376907.1:c.1150C>T | NP_001363836.1:p.Arg384Ter | |
| NM_001376908.1:c.1261C>T | NP_001363837.1:p.Arg421Ter |