Linked Data
ClinVar Variation Id:
375400
ClinVar RCV Id:
RCV000416418
dbSNP Id:
rs1057519454
gnomAD v4:
9-136410732-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136410732C>T , CM000671.2:g.136410732C>T | GRCh38 |
| NC_000009.11:g.139305184C>T , CM000671.1:g.139305184C>T | GRCh37 |
| NC_000009.10:g.138425005C>T | NCBI36 |
| NG_046789.1:g.5160C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444897.3:c.64C>T | ENSP00000408393.2:p.Arg22Trp | |
| ENST00000612553.5:n.92C>T | ||
| ENST00000706227.1:c.64C>T | ENSP00000516285.1:p.Arg22Trp | |
| ENST00000706228.1:c.64C>T | ENSP00000516286.1:p.Arg22Trp | |
| ENST00000706375.1:c.64C>T | ENSP00000516357.1:p.Arg22Trp | |
| ENST00000706376.1:c.64C>T | ENSP00000516358.1:p.Arg22Trp | |
| ENST00000706377.1:c.64C>T | ENSP00000516359.1:p.Arg22Trp | |
| ENST00000706378.1:n.92C>T | ||
| ENST00000706379.1:c.64C>T | ENSP00000516360.1:p.Arg22Trp | |
| ENST00000706380.1:c.64C>T | ENSP00000516361.1:p.Arg22Trp | |
| ENST00000706381.1:n.89C>T | ||
| ENST00000706382.1:n.89C>T | ||
| ENST00000706383.1:n.89C>T | ||
| ENST00000706384.1:c.64C>T | ENSP00000516362.1:p.Arg22Trp | |
| ENST00000706385.1:c.64C>T | ENSP00000516363.1:p.Arg22Trp | |
| ENST00000706386.1:c.64C>T | ENSP00000516364.1:p.Arg22Trp | |
| ENST00000706387.1:c.64C>T | ENSP00000516365.1:p.Arg22Trp | |
| ENST00000706388.1:c.64C>T | ENSP00000516366.1:p.Arg22Trp | |
| ENST00000706389.1:n.79C>T | ||
| ENST00000706390.1:c.64C>T | ENSP00000516367.1:p.Arg22Trp | |
| ENST00000371717.8:c.64C>T MANE Select | ENSP00000360782.3:p.Arg22Trp | |
| ENST00000371717.7:c.64C>T | ENSP00000360782.3:p.Arg22Trp | |
| ENST00000371720.5:n.75C>T | ||
| ENST00000399219.7:c.-235C>T | ENSP00000416702.2:n.-235C>T | |
| ENST00000612553.4:n.92C>T | ||
| ENST00000614402.4:n.59C>T | ||
| ENST00000619192.4:n.89C>T | ||
| ENST00000620412.4:n.75C>T | ||
| ENST00000622209.4:n.73C>T | ||
| NM_001282944.1:c.-235C>T | NP_001269873.1:n.-235C>T | |
| NM_001282946.1:c.-235C>T | NP_001269875.1:n.-235C>T | |
| NM_015160.2:c.64C>T | NP_055975.1:p.Arg22Trp | |
| XM_005266059.3:c.64C>T | XP_005266116.1:p.Arg22Trp | |
| XM_005266059.4:c.64C>T | XP_005266116.1:p.Arg22Trp | |
| XM_017014543.2:c.-511C>T | XP_016870032.1:n.-511C>T | |
| NM_015160.3:c.64C>T MANE Select | NP_055975.1:p.Arg22Trp | |
| NM_001282944.2:c.-235C>T | NP_001269873.1:n.-235C>T | |
| NM_001282946.2:c.-235C>T | NP_001269875.1:n.-235C>T |