gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54426603 (EAS)
Genomes Max Group AF
0.54426603 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.163324253T>C , CM000666.2:g.163324253T>C | GRCh38 |
| NC_000004.11:g.164245405T>C , CM000666.1:g.164245405T>C | GRCh37 |
| NC_000004.10:g.164464855T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296533.3:c.*1050A>G MANE Select | ENSP00000354652.2:n.*1050A>G | |
| ENST00000296533.2:c.*1050A>G | ENSP00000354652.2:n.*1050A>G | |
| NM_000909.5:c.*1050A>G | NP_000900.1:n.*1050A>G | |
| XM_005263031.2:c.*1050A>G | XP_005263088.1:n.*1050A>G | |
| XM_011532010.1:c.*1050A>G | XP_011530312.1:n.*1050A>G | |
| XM_005263031.4:c.*1050A>G | XP_005263088.1:n.*1050A>G | |
| XM_011532010.3:c.*1050A>G | XP_011530312.1:n.*1050A>G | |
| NM_000909.6:c.*1050A>G MANE Select | NP_000900.1:n.*1050A>G |