gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73728766 (AFR)
Genomes Max Group AF
0.73728766 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54156202T>C , CM000682.2:g.54156202T>C | GRCh38 |
| NC_000020.10:g.52772741T>C , CM000682.1:g.52772741T>C | GRCh37 |
| NC_000020.9:g.52206148T>C | NCBI36 |
| NG_008334.1:g.22776A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216862.8:c.*10+967A>G MANE Select | ENSP00000216862.3:n.*10+967A>G | |
| ENST00000216862.7:c.*10+967A>G | ENSP00000216862.3:n.*10+967A>G | |
| ENST00000395954.3:c.*10+967A>G | ENSP00000379284.3:n.*10+967A>G | |
| ENST00000395955.7:c.*10+967A>G | ENSP00000379285.3:n.*10+967A>G | |
| ENST00000460643.1:n.130+967A>G | ||
| NM_000782.4:c.*10+967A>G | NP_000773.2:n.*10+967A>G | |
| NM_001128915.1:c.*10+967A>G | NP_001122387.1:n.*10+967A>G | |
| XM_005260304.3:c.*10+967A>G | XP_005260361.1:n.*10+967A>G | |
| XM_005260304.5:c.*10+967A>G | XP_005260361.1:n.*10+967A>G | |
| XM_017027691.2:c.*10+967A>G | XP_016883180.1:n.*10+967A>G | |
| XM_017027692.2:c.*10+967A>G | XP_016883181.1:n.*10+967A>G | |
| XM_017027693.2:c.*10+967A>G | XP_016883182.1:n.*10+967A>G | |
| NM_000782.5:c.*10+967A>G MANE Select | NP_000773.2:n.*10+967A>G | |
| NM_001128915.2:c.*10+967A>G | NP_001122387.1:n.*10+967A>G |