gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18019004 (AFR)
Genomes Max Group AF
0.17868163 (AFR)
Exomes Max Group AF
0.17970517 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17797478C>T , CM000679.2:g.17797478C>T | GRCh38 |
| NC_000017.10:g.17700792C>T , CM000679.1:g.17700792C>T | GRCh37 |
| NC_000017.9:g.17641517C>T | NCBI36 |
| NG_007101.2:g.121006C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353383.6:c.4530C>T MANE Select | ENSP00000323074.4:p.Pro1510= | |
| ENST00000640861.1:c.4194C>T | ENSP00000491773.1:p.Pro1398= | |
| ENST00000353383.5:c.4530C>T | ENSP00000323074.4:p.Pro1510= | |
| NM_030665.3:c.4530C>T | NP_109590.3:p.Pro1510= | |
| XM_017024025.1:c.4530C>T | XP_016879514.1:p.Pro1510= | |
| XM_017024026.1:c.4530C>T | XP_016879515.1:p.Pro1510= | |
| XM_017024027.1:c.4530C>T | XP_016879516.1:p.Pro1510= | |
| XM_017024028.2:c.4530C>T | XP_016879517.1:p.Pro1510= | |
| NM_030665.4:c.4530C>T MANE Select | NP_109590.3:p.Pro1510= |