Linked Data
ClinVar Variation Id:
423520
dbSNP Id:
rs1064796472
PubMed:
PMID:1944255
PMID:3054499
PMID:9185665
PMID:10509013
PMID:10950926
PMID:11306577
PMID:12606581
PMID:16033648
PMID:19961433
PMID:20053686
PMID:20581448
PMID:20976243
PMID:21504830
PMID:22193954
PMID:22948023
PMID:23001566
PMID:23033978
PMID:23416452
PMID:23424103
PMID:23595291
PMID:23603762
PMID:24013217
PMID:24896178
PMID:25533962
PMID:25590979
PMID:25782155
PMID:27545676
PMID:27545680
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33552565C>T , CM000683.2:g.33552565C>T | GRCh38 |
| NC_000021.8:g.34924871C>T , CM000683.1:g.34924871C>T | GRCh37 |
| NC_000021.7:g.33846741C>T | NCBI36 |
| NG_052981.1:g.14528C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695559.1:c.245-4591C>T | ENSP00000512016.1:n.245-4591C>T | |
| ENST00000704334.1:c.245-4591C>T | ENSP00000515848.1:n.245-4591C>T | |
| ENST00000356577.10:c.3334C>T MANE Select | ENSP00000348984.4:p.Arg1112Ter | |
| ENST00000300278.8:c.3334C>T | ENSP00000300278.2:p.Arg1112Ter | |
| ENST00000356577.8:c.3334C>T | ENSP00000348984.4:p.Arg1112Ter | |
| ENST00000381679.8:c.3334C>T | ENSP00000371095.4:p.Arg1112Ter | |
| ENST00000381692.6:c.245-4591C>T | ENSP00000371111.2:n.245-4591C>T | |
| ENST00000436227.5:c.318C>T | ||
| ENST00000455528.5:c.3334C>T | ENSP00000399783.1:p.Arg1112Ter | |
| NM_001291411.1:c.3334C>T | NP_001278340.1:p.Arg1112Ter | |
| NM_001291412.1:c.245-4591C>T | NP_001278341.1:n.245-4591C>T | |
| NM_032195.2:c.3334C>T | NP_115571.2:p.Arg1112Ter | |
| NM_138927.2:c.3334C>T | NP_620305.2:p.Arg1112Ter | |
| NR_103797.1:n.3389C>T | ||
| NM_138927.3:c.3334C>T | NP_620305.2:p.Arg1112Ter | |
| NM_001291412.2:c.245-4591C>T | NP_001278341.1:n.245-4591C>T | |
| NM_001291411.2:c.3334C>T | NP_001278340.2:p.Arg1112Ter | |
| NM_001291412.3:c.245-4591C>T | NP_001278341.1:n.245-4591C>T | |
| NM_032195.3:c.3334C>T | NP_115571.3:p.Arg1112Ter | |
| NM_138927.4:c.3334C>T MANE Select | NP_620305.3:p.Arg1112Ter | |
| NR_103797.2:n.3389C>T |