Linked Data
ClinVar Variation Id:
438027
ClinVar RCV Id:
RCV000505079
dbSNP Id:
rs1553273280
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215888425C>G , CM000663.2:g.215888425C>G | GRCh38 |
| NC_000001.10:g.216061767C>G , CM000663.1:g.216061767C>G | GRCh37 |
| NC_000001.9:g.214128390C>G | NCBI36 |
| NG_009497.1:g.539972G>C | |
| NG_009497.2:g.540024G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8223+1G>C MANE Select | ENSP00000305941.3:n.8223+1G>C | |
| ENST00000674083.1:c.8223+1G>C | ENSP00000501296.1:n.8223+1G>C | |
| ENST00000307340.7:c.8223+1G>C | ENSP00000305941.3:n.8223+1G>C | |
| NM_206933.2:c.8223+1G>C | NP_996816.2:n.8223+1G>C | |
| NM_206933.3:c.8223+1G>C | NP_996816.2:n.8223+1G>C | |
| NM_206933.4:c.8223+1G>C MANE Select | NP_996816.3:n.8223+1G>C |