ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379335C>T , CM000675.2:g.32379335C>T | GRCh38 |
| NC_000013.10:g.32953472C>T , CM000675.1:g.32953472C>T | GRCh37 |
| NC_000013.9:g.31851472C>T | NCBI36 |
| NG_012772.3:g.68856C>T , LRG_293:g.68856C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8773C>T | ENSP00000434898.2:p.Gln2925Ter | |
| ENST00000528762.2:c.*140C>T | ENSP00000433168.2:n.*140C>T | |
| ENST00000530893.7:c.8404C>T | ENSP00000499438.2:p.Gln2802Ter | |
| ENST00000665585.2:c.*335C>T | ENSP00000499570.2:n.*335C>T | |
| ENST00000666593.2:c.8773C>T | ENSP00000499256.2:p.Gln2925Ter | |
| ENST00000700202.2:c.8773C>T | ENSP00000514856.2:p.Gln2925Ter | |
| ENST00000700202.1:c.1240C>T | ENSP00000514856.1:p.Gln414Ter | |
| ENST00000700203.1:n.900C>T | ||
| ENST00000380152.8:c.8773C>T MANE Select | ENSP00000369497.3:p.Gln2925Ter | |
| ENST00000544455.6:c.8773C>T | ENSP00000439902.1:p.Gln2925Ter | |
| ENST00000614259.2:c.8781C>T | ENSP00000506251.1:n.8781C>T | |
| ENST00000665585.1:c.1651C>T | ||
| ENST00000680887.1:c.8773C>T | ENSP00000505508.1:p.Gln2925Ter | |
| ENST00000380152.7:c.8773C>T | ENSP00000369497.3:p.Gln2925Ter | |
| ENST00000528762.1:c.335C>T | ENSP00000433168.1:n.335C>T | |
| ENST00000544455.5:c.8773C>T | ENSP00000439902.1:p.Gln2925Ter | |
| NM_000059.3:c.8773C>T , LRG_293t1:c.8773C>T | NP_000050.2:p.Gln2925Ter | |
| XM_011535203.1:c.8773C>T | XP_011533505.1:p.Gln2925Ter | |
| XM_011535204.1:c.8677C>T | XP_011533506.1:p.Gln2893Ter | |
| XM_011535205.1:c.8755-415C>T | XP_011533507.1:n.8755-415C>T | |
| NM_000059.4:c.8773C>T MANE Select | NP_000050.3:p.Gln2925Ter |