gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44411098 (AMR)
Genomes Max Group AF
0.44411098 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.24596299T>C , CM000684.2:g.24596299T>C | GRCh38 |
| NC_000022.10:g.24992266T>C , CM000684.1:g.24992266T>C | GRCh37 |
| NC_000022.9:g.23322266T>C | NCBI36 |
| NG_008111.1:g.17549T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651180.1:n.60-11655T>C | ||
| ENST00000652248.1:c.*168-11655T>C | ENSP00000499210.1:n.*168-11655T>C | |
| ENST00000248923.8:c.-428-11655T>C (GGT1) | ENSP00000248923.4:n.-428-11655T>C | |
| ENST00000404603.5:c.*168-11655T>C (SNRPD3) | ENSP00000456090.1:n.*168-11655T>C | |
| ENST00000411974.5:c.-324+1413T>C (GGT1) | ENSP00000389935.1:n.-324+1413T>C | |
| ENST00000439775.1:c.*163-11655T>C (SNRPD3) | ENSP00000456969.1:n.*163-11655T>C | |
| ENST00000456869.5:c.-432+1413T>C (GGT1) | ENSP00000415129.1:n.-432+1413T>C | |
| NM_013430.2:c.-428-11655T>C (GGT1) | NP_038347.2:n.-428-11655T>C | |
| NM_013430.3:c.-428-11655T>C (GGT1) | NP_038347.2:n.-428-11655T>C |