Linked Data
ClinVar Variation Id:
1106506
ClinVar RCV Id:
RCV001431262
dbSNP Id:
rs1857344657
gnomAD v4:
11-65720072-G-C
MyVariant Identifiers:
chr11:g.65487543G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65720072G>C , CM000673.2:g.65720072G>C | GRCh38 |
| NC_000011.9:g.65487543G>C , CM000673.1:g.65487543G>C | GRCh37 |
| NC_000011.8:g.65244119G>C | NCBI36 |
| NG_008976.2:g.5867C>G , LRG_280:g.5867C>G | |
| NG_033057.1:g.13071G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308418.10:c.441C>G MANE Select | ENSP00000308193.5:p.Ala147= | |
| ENST00000528220.2:n.670C>G | ||
| ENST00000531596.6:c.441C>G | ENSP00000435717.2:p.Ala147= | |
| ENST00000534482.6:c.441C>G | ENSP00000432081.2:p.Ala147= | |
| ENST00000642430.1:n.334C>G | ||
| ENST00000643214.1:n.515C>G | ||
| ENST00000644142.1:c.441C>G | ENSP00000493695.1:p.Ala147= | |
| ENST00000644198.1:n.338C>G | ||
| ENST00000646597.1:n.378C>G | ||
| ENST00000308418.8:c.441C>G | ENSP00000308193.4:p.Ala147= | |
| ENST00000527610.1:c.441C>G | ENSP00000432897.1:p.Ala147= | |
| ENST00000528220.1:c.192C>G | ENSP00000431555.1:p.Ala64= | |
| ENST00000530192.1:n.558C>G | ||
| ENST00000531596.5:c.422C>G | ||
| ENST00000533698.5:c.320C>G | ||
| ENST00000534482.5:c.335C>G | ||
| NM_032193.3:c.441C>G , LRG_280t1:c.441C>G | NP_115569.2:p.Ala147= | |
| NM_032193.4:c.441C>G MANE Select | NP_115569.2:p.Ala147= |