Linked Data
ClinVar Variation Id:
12345
ClinVar RCV Id:
RCV000013138
dbSNP Id:
rs104895228
PubMed:
PMID:13130484
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333764A>T , CM000674.2:g.6333764A>T | GRCh38 |
| NC_000012.11:g.6442930A>T , CM000674.1:g.6442930A>T | GRCh37 |
| NC_000012.10:g.6313191A>T | NCBI36 |
| NG_007506.1:g.13332T>A , LRG_193:g.13332T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366159.9:n.329T>A | ||
| ENST00000437813.8:c.295T>A | ENSP00000513672.1:p.Cys99Ser | |
| ENST00000440083.7:c.295T>A | ENSP00000413224.3:p.Cys99Ser | |
| ENST00000535958.2:c.*122T>A | ENSP00000513673.1:n.*122T>A | |
| ENST00000698339.1:c.295T>A | ENSP00000513670.1:p.Cys99Ser | |
| ENST00000698340.1:c.295T>A | ENSP00000513671.1:p.Cys99Ser | |
| ENST00000162749.7:c.295T>A MANE Select | ENSP00000162749.2:p.Cys99Ser | |
| ENST00000162749.6:c.295T>A | ENSP00000162749.2:p.Cys99Ser | |
| ENST00000366159.8:c.295T>A | ENSP00000380389.3:p.Cys99Ser | |
| ENST00000437813.7:n.256T>A | ||
| ENST00000440083.6:c.295T>A | ENSP00000413224.2:p.Cys99Ser | |
| ENST00000534885.5:c.141T>A | ENSP00000441803.1:p.Thr47= | |
| ENST00000535958.1:n.541T>A | ||
| ENST00000536194.1:c.268T>A | ENSP00000442919.1:p.Cys90Ser | |
| ENST00000539372.5:c.295T>A | ENSP00000442059.1:p.Cys99Ser | |
| ENST00000540022.5:c.194-248T>A | ENSP00000438343.1:n.194-248T>A | |
| ENST00000543048.5:c.214+81T>A | ENSP00000439981.1:n.214+81T>A | |
| ENST00000543995.5:c.194-313T>A | ENSP00000442405.1:n.194-313T>A | |
| NM_001065.3:c.295T>A , LRG_193t1:c.295T>A | NP_001056.1:p.Cys99Ser | |
| NM_001346091.1:c.-30T>A | NP_001333020.1:n.-30T>A | |
| NM_001346092.1:c.-283T>A | NP_001333021.1:n.-283T>A | |
| NR_144351.1:n.598T>A | ||
| NM_001065.4:c.295T>A MANE Select | NP_001056.1:p.Cys99Ser | |
| NM_001346091.2:c.-30T>A | NP_001333020.1:n.-30T>A | |
| NM_001346092.2:c.-283T>A | NP_001333021.1:n.-283T>A | |
| NR_144351.2:n.557T>A |