gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.147650438C>G , CM000668.2:g.147650438C>G | GRCh38 |
| NC_000006.11:g.147971574C>G , CM000668.1:g.147971574C>G | GRCh37 |
| NC_000006.10:g.148013267C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000566741.1:c.163-86879C>G | ENSP00000456528.1:n.163-86879C>G | |
| XM_011535819.1:c.460-83291C>G | XP_011534121.1:n.460-83291C>G | |
| XM_017010850.1:c.459+141051C>G | XP_016866339.1:n.459+141051C>G |