Linked Data
ClinVar Variation Id:
17171
ClinVar RCV Id:
RCV000018711
dbSNP Id:
rs797044456
PubMed:
PMID:10329467
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990828T>C , CM000683.2:g.45990828T>C | GRCh38 |
| NC_000021.8:g.47410742T>C , CM000683.1:g.47410742T>C | GRCh37 |
| NC_000021.7:g.46235170T>C | NCBI36 |
| NG_008674.1:g.14080T>C , LRG_475:g.14080T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1056+2T>C MANE Select | ENSP00000355180.3:n.1056+2T>C | |
| ENST00000361866.7:c.1056+2T>C | ENSP00000355180.3:n.1056+2T>C | |
| ENST00000612273.1:c.1056+2T>C | ENSP00000483630.1:n.1056+2T>C | |
| NM_001848.2:c.1056+2T>C , LRG_475t1:c.1056+2T>C | NP_001839.2:n.1056+2T>C | |
| NM_001848.3:c.1056+2T>C MANE Select | NP_001839.2:n.1056+2T>C |