gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001784 (AFR)
Genomes Max Group AF
0.00001932 (AFR)
Exomes Max Group AF
0.00000272 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104883051A>T , CM000676.2:g.104883051A>T | GRCh38 |
| NC_000014.8:g.105349388A>T , CM000676.1:g.105349388A>T | GRCh37 |
| NC_000014.7:g.104420433A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414716.8:c.594A>T MANE Select | ENSP00000404151.2:p.Pro198= | |
| ENST00000414716.7:c.594A>T | ENSP00000404151.2:p.Pro198= | |
| ENST00000453495.2:c.597A>T | ENSP00000407238.1:p.Pro199= | |
| ENST00000556508.5:c.384A>T | ENSP00000451249.1:p.Pro128= | |
| NM_001112726.2:c.594A>T | NP_001106197.1:p.Pro198= | |
| NM_015005.2:c.384A>T | NP_055820.2:p.Pro128= | |
| XM_005267550.2:c.594A>T | XP_005267607.1:p.Pro198= | |
| XM_011536665.1:c.594A>T | XP_011534967.1:p.Pro198= | |
| XM_011536666.1:c.594A>T | XP_011534968.1:p.Pro198= | |
| XM_005267550.4:c.594A>T | XP_005267607.1:p.Pro198= | |
| XM_011536665.2:c.594A>T | XP_011534967.1:p.Pro198= | |
| XM_011536666.2:c.594A>T | XP_011534968.1:p.Pro198= | |
| XM_017021227.1:c.822A>T | XP_016876716.1:p.Pro274= | |
| XM_017021228.1:c.822A>T | XP_016876717.1:p.Pro274= | |
| XM_017021229.1:c.822A>T | XP_016876718.1:p.Pro274= | |
| XM_017021230.1:c.822A>T | XP_016876719.1:p.Pro274= | |
| NM_001112726.3:c.594A>T MANE Select | NP_001106197.1:p.Pro198= | |
| NM_015005.3:c.384A>T | NP_055820.2:p.Pro128= |