gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148476770G>C , CM000667.2:g.148476770G>C | GRCh38 |
| NC_000005.9:g.147856333G>C , CM000667.1:g.147856333G>C | GRCh37 |
| NC_000005.8:g.147836526G>C | NCBI36 |
| NG_029052.1:g.182407C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521530.6:c.1077-25498C>G | ENSP00000428320.1:n.1077-25498C>G | |
| ENST00000517929.5:c.1077-25C>G | ENSP00000435904.1:n.1077-25C>G | |
| ENST00000521530.5:c.1077-25498C>G | ENSP00000428320.1:n.1077-25498C>G | |
| ENST00000521735.5:c.1077-10845C>G | ENSP00000430979.1:n.1077-10845C>G | |
| ENST00000522588.5:c.1077-10845C>G | ENSP00000430874.1:n.1077-10845C>G | |
| NM_001040169.2:c.1077-25498C>G | NP_001035259.1:n.1077-25498C>G | |
| NM_001040172.2:c.1077-25C>G | NP_001035262.2:n.1077-25C>G | |
| NM_199453.3:c.1077-10845C>G | NP_955525.1:n.1077-10845C>G | |
| XR_001742935.1:n.776+7753G>C |