ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27986498 (SAS)
Genomes Max Group AF
0.27934284 (SAS)
Exomes Max Group AF
0.2177509 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54154722G>A , CM000682.2:g.54154722G>A | GRCh38 |
| NC_000020.10:g.52771261G>A , CM000682.1:g.52771261G>A | GRCh37 |
| NC_000020.9:g.52204668G>A | NCBI36 |
| NG_008334.1:g.24256C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216862.8:c.*50C>T MANE Select | ENSP00000216862.3:n.*50C>T | |
| ENST00000216862.7:c.*50C>T | ENSP00000216862.3:n.*50C>T | |
| ENST00000395954.3:c.*50C>T | ENSP00000379284.3:n.*50C>T | |
| ENST00000395955.7:c.*50C>T | ENSP00000379285.3:n.*50C>T | |
| ENST00000460643.1:n.342C>T | ||
| NM_000782.4:c.*50C>T | NP_000773.2:n.*50C>T | |
| NM_001128915.1:c.*50C>T | NP_001122387.1:n.*50C>T | |
| XM_005260304.3:c.*222C>T | XP_005260361.1:n.*222C>T | |
| XM_005260304.5:c.*222C>T | XP_005260361.1:n.*222C>T | |
| XM_017027691.2:c.*70C>T | XP_016883180.1:n.*70C>T | |
| XM_017027692.2:c.*10+2447C>T | XP_016883181.1:n.*10+2447C>T | |
| XM_017027693.2:c.*222C>T | XP_016883182.1:n.*222C>T | |
| NM_000782.5:c.*50C>T MANE Select | NP_000773.2:n.*50C>T | |
| NM_001128915.2:c.*50C>T | NP_001122387.1:n.*50C>T |