Linked Data
ClinVar Variation Id:
1029
ClinVar RCV Id:
RCV000001084
dbSNP Id:
rs796051854
PubMed:
PMID:17924334
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.246512G>C , CM000669.2:g.246512G>C | GRCh38 |
| NC_000007.13:g.286478G>C , CM000669.1:g.286478G>C | GRCh37 |
| NG_033970.1:g.56148G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313766.6:c.956+5G>C MANE Select | ENSP00000322323.5:n.956+5G>C | |
| ENST00000313766.5:c.956+5G>C | ENSP00000322323.5:n.956+5G>C | |
| ENST00000515795.1:n.613+5G>C | ||
| NM_020223.3:c.956+5G>C | NP_064608.2:n.956+5G>C | |
| XR_242097.3:n.1103+5G>C | ||
| XM_017012450.1:c.1217+5G>C | XP_016867939.1:n.1217+5G>C | |
| XM_017012451.1:c.1214+5G>C | XP_016867940.1:n.1214+5G>C | |
| XM_017012452.1:c.1217+5G>C | XP_016867941.1:n.1217+5G>C | |
| XM_017012455.2:c.254+5G>C | XP_016867944.1:n.254+5G>C | |
| XR_001744837.1:n.1103+5G>C | ||
| NM_020223.4:c.956+5G>C MANE Select | NP_064608.2:n.956+5G>C |