gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13890769 (SAS)
Genomes Max Group AF
0.14177212 (SAS)
Exomes Max Group AF
0.13830121 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.766072T>C , CM000678.2:g.766072T>C | GRCh38 |
| NC_000016.9:g.816072T>C , CM000678.1:g.816072T>C | GRCh37 |
| NC_000016.8:g.756073T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545450.7:c.909T>C MANE Select | ENSP00000442965.2:p.Pro303= | |
| ENST00000382862.7:c.909T>C | ENSP00000372313.3:p.Pro303= | |
| ENST00000545450.6:c.909T>C | ENSP00000442965.2:p.Pro303= | |
| ENST00000561896.1:c.21T>C | ENSP00000457847.1:p.Pro7= | |
| ENST00000563651.5:c.738T>C | ENSP00000456132.1:p.Pro246= | |
| ENST00000563941.5:c.909T>C | ENSP00000456008.1:p.Pro303= | |
| ENST00000566269.6:c.73T>C | ||
| ENST00000566549.5:c.909T>C | ENSP00000456702.1:p.Pro303= | |
| ENST00000620831.4:c.909T>C | ENSP00000482893.1:p.Pro303= | |
| NM_001177355.1:c.909T>C | NP_001170826.1:p.Pro303= | |
| NM_005823.5:c.909T>C | NP_005814.2:p.Pro303= | |
| NM_013404.4:c.909T>C | NP_037536.2:p.Pro303= | |
| XM_005255034.3:c.906T>C | XP_005255091.1:p.Pro302= | |
| XM_006720837.2:c.909T>C | XP_006720900.1:p.Pro303= | |
| XM_011522346.1:c.906T>C | XP_011520648.1:p.Pro302= | |
| XM_011522347.1:c.906T>C | XP_011520649.1:p.Pro302= | |
| XM_011522348.1:c.909T>C | XP_011520650.1:p.Pro303= | |
| XM_011522349.1:c.909T>C | XP_011520651.1:p.Pro303= | |
| XM_011522350.1:c.909T>C | XP_011520652.1:p.Pro303= | |
| NM_001177355.2:c.909T>C | NP_001170826.1:p.Pro303= | |
| NM_005823.6:c.909T>C MANE Select | NP_005814.2:p.Pro303= | |
| NM_001177355.3:c.909T>C | NP_001170826.1:p.Pro303= |