gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.80798602G>C , CM000670.2:g.80798602G>C | GRCh38 |
| NC_000008.10:g.81710837G>C , CM000670.1:g.81710837G>C | GRCh37 |
| NC_000008.9:g.81873392G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519936.2:c.743+22772C>G | ENSP00000427715.2:n.743+22772C>G | |
| ENST00000327835.7:c.221+22772C>G MANE Select | ENSP00000331462.3:n.221+22772C>G | |
| ENST00000519936.1:c.221+22772C>G | ENSP00000427715.1:n.221+22772C>G | |
| ENST00000520336.1:n.148+15510C>G | ||
| NM_001033723.2:c.221+22772C>G | NP_001028895.1:n.221+22772C>G | |
| XM_005251279.3:c.743+22772C>G | XP_005251336.2:n.743+22772C>G | |
| XM_006716464.2:c.221+22772C>G | XP_006716527.1:n.221+22772C>G | |
| XR_928797.1:n.878+22772C>G | ||
| XM_005251279.4:c.743+22772C>G | XP_005251336.2:n.743+22772C>G | |
| XM_017013725.1:c.245+22772C>G | XP_016869214.1:n.245+22772C>G | |
| XR_928797.2:n.1084+22772C>G | ||
| NM_001033723.3:c.221+22772C>G MANE Select | NP_001028895.1:n.221+22772C>G | |
| NM_001367783.1:c.743+22772C>G | NP_001354712.1:n.743+22772C>G |