gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00047143 (AFR)
Genomes Max Group AF
0.00018476 (AFR)
Exomes Max Group AF
0.00072108 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102935105G>A , CM000663.2:g.102935105G>A | GRCh38 |
| NC_000001.10:g.103400661G>A , CM000663.1:g.103400661G>A | GRCh37 |
| NC_000001.9:g.103173249G>A | NCBI36 |
| NG_008033.1:g.178392C>T | |
| NG_008033.2:g.178392C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.3447C>T MANE Select | ENSP00000359114.3:p.Pro1149= | |
| ENST00000353414.8:c.3330C>T | ENSP00000302551.6:p.Pro1110= | |
| ENST00000358392.6:c.3483C>T | ENSP00000351163.2:p.Pro1161= | |
| ENST00000370096.7:c.3447C>T | ENSP00000359114.3:p.Pro1149= | |
| ENST00000512756.5:c.3099C>T | ENSP00000426533.1:p.Pro1033= | |
| ENST00000635193.1:c.2781C>T | ||
| NM_001190709.1:c.3330C>T | NP_001177638.1:p.Pro1110= | |
| NM_001854.3:c.3447C>T | NP_001845.3:p.Pro1149= | |
| NM_080629.2:c.3483C>T | NP_542196.2:p.Pro1161= | |
| NM_080630.3:c.3099C>T | NP_542197.3:p.Pro1033= | |
| XM_011540719.1:c.3447C>T | XP_011539021.1:p.Pro1149= | |
| XM_011540720.1:c.1680C>T | XP_011539022.1:p.Pro560= | |
| XM_011540721.1:c.1035C>T | XP_011539023.1:p.Pro345= | |
| NR_134980.1:n.3781C>T | ||
| XM_017000334.1:c.3600C>T | XP_016855823.1:p.Pro1200= | |
| XM_017000335.1:c.3594C>T | XP_016855824.1:p.Pro1198= | |
| XM_017000336.1:c.3600C>T | XP_016855825.1:p.Pro1200= | |
| XM_017000337.1:c.1998C>T | XP_016855826.1:p.Pro666= | |
| NM_001854.4:c.3447C>T MANE Select | NP_001845.3:p.Pro1149= | |
| NM_080630.4:c.3099C>T | NP_542197.3:p.Pro1033= | |
| NR_134980.2:n.3807C>T | ||
| NM_001190709.2:c.3330C>T | NP_001177638.1:p.Pro1110= | |
| NM_080629.3:c.3483C>T | NP_542196.2:p.Pro1161= |