gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006237 (AFR)
Genomes Max Group AF
0.00006287 (AFR)
Exomes Max Group AF
0.00003718 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116426607G>A , CM000668.2:g.116426607G>A | GRCh38 |
| NC_000006.11:g.116747770G>A , CM000668.1:g.116747770G>A | GRCh37 |
| NC_000006.10:g.116854463G>A | NCBI36 |
| NG_033266.1:g.151488G>A | |
| NG_033266.3:g.177456G>A | |
| NG_033266.4:g.177437G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359564.3:c.450G>A | ENSP00000352567.3:p.Pro150= | |
| ENST00000644252.3:c.450G>A MANE Select | ENSP00000494147.2:p.Pro150= | |
| ENST00000644499.1:c.306G>A | ENSP00000495266.1:p.Pro102= | |
| ENST00000646710.1:c.450G>A | ENSP00000495970.1:p.Pro150= | |
| ENST00000647244.1:c.450G>A | ENSP00000495184.1:p.Pro150= | |
| ENST00000331677.7:c.450G>A | ENSP00000332151.2:p.Pro150= | |
| ENST00000359564.2:c.450G>A | ENSP00000352567.2:p.Pro150= | |
| ENST00000452085.7:c.450G>A | ENSP00000404049.2:p.Pro150= | |
| ENST00000606265.1:n.419G>A | ||
| NM_001080976.1:c.450G>A | NP_001074445.1:p.Pro150= | |
| NM_013352.2:c.450G>A | NP_037484.1:p.Pro150= | |
| XM_011535785.1:c.-138G>A | XP_011534087.1:n.-138G>A | |
| NM_001080976.2:c.450G>A | NP_001074445.1:p.Pro150= | |
| NM_001322937.1:c.450G>A | NP_001309866.1:p.Pro150= | |
| NM_001322938.1:c.450G>A | NP_001309867.1:p.Pro150= | |
| NM_001322939.1:c.507G>A | NP_001309868.1:p.Pro169= | |
| NM_001322940.1:c.-112G>A | NP_001309869.1:n.-112G>A | |
| NM_001322941.1:c.-112G>A | NP_001309870.1:n.-112G>A | |
| NM_001322943.1:c.450G>A | NP_001309872.1:p.Pro150= | |
| NM_001322944.1:c.450G>A | NP_001309873.1:p.Pro150= | |
| NM_013352.3:c.450G>A | NP_037484.1:p.Pro150= | |
| NR_136524.1:n.697G>A | ||
| XM_017010795.1:c.507G>A | XP_016866284.1:p.Pro169= | |
| XM_017010796.1:c.450G>A | XP_016866285.1:p.Pro150= | |
| XM_017010797.1:c.507G>A | XP_016866286.1:p.Pro169= | |
| NM_001080976.3:c.450G>A | NP_001074445.1:p.Pro150= | |
| NM_001322937.2:c.450G>A | NP_001309866.1:p.Pro150= | |
| NM_001322938.2:c.450G>A | NP_001309867.1:p.Pro150= | |
| NM_001322939.2:c.507G>A | NP_001309868.1:p.Pro169= | |
| NM_001322940.2:c.-112G>A | NP_001309869.1:n.-112G>A | |
| NM_001322941.2:c.-112G>A | NP_001309870.1:n.-112G>A | |
| NM_001322943.2:c.450G>A | NP_001309872.1:p.Pro150= | |
| NM_001322944.2:c.450G>A | NP_001309873.1:p.Pro150= | |
| NM_001374520.1:c.-451G>A | NP_001361449.1:n.-451G>A | |
| NM_001374521.1:c.-138G>A | NP_001361450.1:n.-138G>A | |
| NM_001374522.1:c.450G>A | NP_001361451.1:p.Pro150= | |
| NM_013352.4:c.450G>A MANE Select | NP_037484.1:p.Pro150= | |
| NR_136524.2:n.674G>A |