ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00320704 (AFR)
Genomes Max Group AF
0.00269033 (AFR)
Exomes Max Group AF
0.00353458 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387414G>A , CM000673.2:g.17387414G>A | GRCh38 |
| NC_000011.9:g.17408961G>A , CM000673.1:g.17408961G>A | GRCh37 |
| NC_000011.8:g.17365537G>A | NCBI36 |
| NG_012446.1:g.6246C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682350.1:c.417C>T | ENSP00000508090.1:p.Pro139= | |
| ENST00000682764.1:c.417C>T | ENSP00000506780.1:p.Pro139= | |
| ENST00000339994.5:c.678C>T MANE Select | ENSP00000345708.4:p.Pro226= | |
| ENST00000339994.4:c.678C>T | ENSP00000345708.4:p.Pro226= | |
| ENST00000526912.1:c.417C>T | ENSP00000432729.1:p.Pro139= | |
| ENST00000528731.1:c.417C>T | ENSP00000434755.1:p.Pro139= | |
| NM_000525.3:c.678C>T | NP_000516.3:p.Pro226= | |
| NM_001166290.1:c.417C>T | NP_001159762.1:p.Pro139= | |
| XM_006718226.2:c.417C>T | XP_006718289.1:p.Pro139= | |
| XR_930867.1:n.836C>T | ||
| XM_006718226.3:c.417C>T | XP_006718289.1:p.Pro139= | |
| XM_017017680.1:c.417C>T | XP_016873169.1:p.Pro139= | |
| NM_001166290.2:c.417C>T | NP_001159762.1:p.Pro139= | |
| NM_001377296.1:c.417C>T | NP_001364225.1:p.Pro139= | |
| NM_001377297.1:c.417C>T | NP_001364226.1:p.Pro139= | |
| NM_000525.4:c.678C>T MANE Select | NP_000516.3:p.Pro226= |