Linked Data
ClinVar Variation Id:
2880639
ClinVar RCV Id:
RCV003648710
dbSNP Id:
rs1296335886
gnomAD v2:
15-68502110-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68209772G>C , CM000677.2:g.68209772G>C | GRCh38 |
| NC_000015.9:g.68502110G>C , CM000677.1:g.68502110G>C | GRCh37 |
| NC_000015.8:g.66289164G>C | NCBI36 |
| NG_008764.2:g.52440C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.543-13C>G MANE Select | ENSP00000249806.5:n.543-13C>G | |
| ENST00000562767.2:c.84-12144C>G | ENSP00000456336.1:n.84-12144C>G | |
| ENST00000563917.2:n.385-13C>G | ||
| ENST00000565471.6:c.84-13C>G | ENSP00000457384.1:n.84-13C>G | |
| ENST00000635747.1:c.*446-13C>G | ENSP00000490627.1:n.*446-13C>G | |
| ENST00000636212.1:c.*213-13C>G | ENSP00000489851.1:n.*213-13C>G | |
| ENST00000636314.1:c.239-13C>G | ENSP00000490295.1:n.239-13C>G | |
| ENST00000636674.1:n.1645-13C>G | ||
| ENST00000636964.1:n.2071-13C>G | ||
| ENST00000637054.1:c.198+8764C>G | ENSP00000490807.1:n.198+8764C>G | |
| ENST00000637223.1:c.*257-13C>G | ENSP00000490010.1:n.*257-13C>G | |
| ENST00000637329.1:c.512-13C>G | ||
| ENST00000637450.1:c.*197-13C>G | ENSP00000490204.1:n.*197-13C>G | |
| ENST00000637494.1:c.255-13C>G | ENSP00000490057.1:n.255-13C>G | |
| ENST00000637667.1:c.444-13C>G | ENSP00000489843.1:n.444-13C>G | |
| ENST00000637823.1:c.368-13C>G | ||
| ENST00000637888.1:c.198+8764C>G | ENSP00000490546.1:n.198+8764C>G | |
| ENST00000638076.1:c.*146-13C>G | ENSP00000490373.1:n.*146-13C>G | |
| ENST00000638144.1:n.186-13C>G | ||
| ENST00000646164.1:c.38+8764C>G | ||
| ENST00000249806.9:c.543-13C>G | ENSP00000249806.5:n.543-13C>G | |
| ENST00000538696.5:c.639-13C>G | ENSP00000445770.1:n.639-13C>G | |
| ENST00000562767.1:c.84-12144C>G | ENSP00000456336.1:n.84-12144C>G | |
| ENST00000563917.1:n.443-13C>G | ||
| ENST00000564752.1:c.569-13C>G | ENSP00000457822.1:n.569-13C>G | |
| ENST00000565471.5:c.84-13C>G | ENSP00000457384.1:n.84-13C>G | |
| ENST00000566347.5:c.354-13C>G | ENSP00000457783.1:n.354-13C>G | |
| ENST00000567060.5:c.298-52C>G | ENSP00000454818.1:n.298-52C>G | |
| NM_017882.2:c.543-13C>G | NP_060352.1:n.543-13C>G | |
| XR_931861.1:n.765-13C>G | ||
| NM_017882.3:c.543-13C>G MANE Select | NP_060352.1:n.543-13C>G |