gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85668581C>G , CM000664.2:g.85668581C>G | GRCh38 |
| NC_000002.11:g.85895704C>G , CM000664.1:g.85895704C>G | GRCh37 |
| NC_000002.10:g.85749215C>G | NCBI36 |
| NG_016967.1:g.5161G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409383.6:c.-69+93G>C | ENSP00000386346.2:n.-69+93G>C | |
| ENST00000393822.7:c.-69+93G>C | ENSP00000377409.4:n.-69+93G>C | |
| ENST00000409383.5:c.-33+93G>C | ENSP00000386346.1:n.-33+93G>C | |
| NM_000542.3:c.-33+93G>C | NP_000533.3:n.-33+93G>C | |
| NM_198843.2:c.-33+93G>C | NP_942140.2:n.-33+93G>C | |
| NM_198843.3:c.-69+93G>C | NP_942140.3:n.-69+93G>C |