Linked Data
ClinVar Variation Id:
1685030
ClinVar RCV Id:
RCV002248122
dbSNP Id:
rs1014369151
gnomAD v4:
13-27623014-C-T
COSMIC:
COSM1366175
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27623014C>T , CM000675.2:g.27623014C>T | GRCh38 |
| NC_000013.10:g.28197151C>T , CM000675.1:g.28197151C>T | GRCh37 |
| NC_000013.9:g.27095151C>T | NCBI36 |
| NG_028908.1:g.7272C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636952.2:c.26+1005C>T | ENSP00000508561.1:n.26+1005C>T | |
| ENST00000685267.1:c.26+1005C>T | ENSP00000508576.1:n.26+1005C>T | |
| ENST00000692944.1:c.26+1005C>T | ENSP00000510286.1:n.26+1005C>T | |
| ENST00000693488.1:c.-59+1577C>T | ENSP00000508846.1:n.-59+1577C>T | |
| ENST00000302979.5:c.166C>T MANE Select | ENSP00000302478.4:p.Arg56Cys | |
| ENST00000636817.1:c.26+1005C>T | ENSP00000490310.1:n.26+1005C>T | |
| ENST00000637071.1:c.-84+1005C>T | ENSP00000489713.1:n.-84+1005C>T | |
| ENST00000637180.1:c.-59+1577C>T | ENSP00000490619.1:n.-59+1577C>T | |
| ENST00000637389.1:n.71+1751C>T | ||
| ENST00000302979.4:c.166C>T | ENSP00000302478.3:p.Arg56Cys | |
| ENST00000399696.3:c.115C>T | ENSP00000382603.2:p.Arg39Cys | |
| ENST00000399697.7:c.26+1005C>T | ENSP00000382604.3:n.26+1005C>T | |
| ENST00000465887.2:c.26+1005C>T | ENSP00000487057.1:n.26+1005C>T | |
| ENST00000489647.4:c.26+1005C>T | ENSP00000483656.1:n.26+1005C>T | |
| ENST00000621089.2:c.-59+1874C>T | ENSP00000478213.1:n.-59+1874C>T | |
| ENST00000627604.1:c.-59+1577C>T | ENSP00000486327.1:n.-59+1577C>T | |
| ENST00000630983.1:c.26+1005C>T | ENSP00000486928.1:n.26+1005C>T | |
| NM_001206559.1:c.-59+1874C>T | NP_001193488.1:n.-59+1874C>T | |
| NM_015972.3:c.166C>T | NP_057056.1:p.Arg56Cys | |
| NM_152705.2:c.26+1005C>T | NP_689918.1:n.26+1005C>T | |
| XM_005266412.1:c.166C>T | XP_005266469.1:p.Arg56Cys | |
| XM_005266414.1:c.26+1005C>T | XP_005266471.1:n.26+1005C>T | |
| XM_005266412.2:c.166C>T | XP_005266469.1:p.Arg56Cys | |
| NM_001206559.2:c.-59+1874C>T | NP_001193488.1:n.-59+1874C>T | |
| NM_001374407.1:c.166C>T | NP_001361336.1:p.Arg56Cys | |
| NM_015972.4:c.166C>T MANE Select | NP_057056.1:p.Arg56Cys | |
| NM_152705.3:c.26+1005C>T | NP_689918.1:n.26+1005C>T |