gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43953963C>G , CM000679.2:g.43953963C>G | GRCh38 |
| NC_000017.10:g.42031331C>G , CM000679.1:g.42031331C>G | GRCh37 |
| NC_000017.9:g.39386857C>G | NCBI36 |
| NG_023338.1:g.55507G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360085.6:c.-114G>C | ENSP00000353198.1:n.-114G>C | |
| NM_004160.4:c.-114G>C | NP_004151.3:n.-114G>C | |
| XM_011525035.1:c.-114G>C | XP_011523337.1:n.-114G>C | |
| NM_004160.5:c.-114G>C | NP_004151.3:n.-114G>C | |
| NM_004160.6:c.-114G>C | NP_004151.4:n.-114G>C |