gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003233 (AMR)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00002995 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20636335G>A , CM000673.2:g.20636335G>A | GRCh38 |
| NC_000011.9:g.20657881G>A , CM000673.1:g.20657881G>A | GRCh37 |
| NC_000011.8:g.20614457G>A | NCBI36 |
| NG_013086.1:g.41936G>A | |
| NG_013086.2:g.41936G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525748.6:c.1653G>A MANE Select | ENSP00000434364.2:p.Pro551= | |
| ENST00000298923.11:c.*950G>A | ENSP00000298923.7:n.*950G>A | |
| ENST00000525748.5:c.1653G>A | ENSP00000434364.1:p.Pro551= | |
| ENST00000528440.1:n.184G>A | ||
| NM_004211.3:c.1653G>A | NP_004202.2:p.Pro551= | |
| XM_005253225.1:c.951G>A | XP_005253282.1:p.Pro317= | |
| XM_011520473.1:c.1653G>A | XP_011518775.1:p.Pro551= | |
| NM_001318369.1:c.951G>A | NP_001305298.1:p.Pro317= | |
| NM_004211.4:c.1653G>A | NP_004202.3:p.Pro551= | |
| XM_017018544.2:c.777G>A | XP_016874033.1:p.Pro259= | |
| XM_017018545.2:c.612G>A | XP_016874034.1:p.Pro204= | |
| NM_001318369.2:c.951G>A | NP_001305298.1:p.Pro317= | |
| NM_004211.5:c.1653G>A MANE Select | NP_004202.4:p.Pro551= |