Linked Data
ClinVar Variation Id:
1593360
ClinVar RCV Id:
RCV002112821
dbSNP Id:
rs368723275
ExAC:
11:65487647 G / C
gnomAD v2:
11-65487647-G-C
gnomAD v3:
11-65720176-G-C
gnomAD v4:
11-65720176-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65720176G>C , CM000673.2:g.65720176G>C | GRCh38 |
| NC_000011.9:g.65487647G>C , CM000673.1:g.65487647G>C | GRCh37 |
| NC_000011.8:g.65244223G>C | NCBI36 |
| NG_008976.2:g.5763C>G , LRG_280:g.5763C>G | |
| NG_033057.1:g.13175G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308418.10:c.349-12C>G MANE Select | ENSP00000308193.5:n.349-12C>G | |
| ENST00000528220.2:n.578-12C>G | ||
| ENST00000531596.6:c.349-12C>G | ENSP00000435717.2:n.349-12C>G | |
| ENST00000534482.6:c.349-12C>G | ENSP00000432081.2:n.349-12C>G | |
| ENST00000642430.1:n.242-12C>G | ||
| ENST00000643214.1:n.411C>G | ||
| ENST00000644142.1:c.349-12C>G | ENSP00000493695.1:n.349-12C>G | |
| ENST00000644198.1:n.246-12C>G | ||
| ENST00000646597.1:n.286-12C>G | ||
| ENST00000308418.8:c.349-12C>G | ENSP00000308193.4:n.349-12C>G | |
| ENST00000527610.1:c.349-12C>G | ENSP00000432897.1:n.349-12C>G | |
| ENST00000528220.1:c.100-12C>G | ENSP00000431555.1:n.100-12C>G | |
| ENST00000530192.1:n.454C>G | ||
| ENST00000531596.5:c.330-12C>G | ||
| ENST00000533698.5:c.228-12C>G | ||
| ENST00000534482.5:c.243-12C>G | ||
| NM_032193.3:c.349-12C>G , LRG_280t1:c.349-12C>G | NP_115569.2:n.349-12C>G | |
| NM_032193.4:c.349-12C>G MANE Select | NP_115569.2:n.349-12C>G |