gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00416274 (SAS)
Genomes Max Group AF
0.00274441 (SAS)
Exomes Max Group AF
0.00417331 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43875226A>G , CM000664.2:g.43875226A>G | GRCh38 |
| NC_000002.11:g.44102365A>G , CM000664.1:g.44102365A>G | GRCh37 |
| NC_000002.10:g.43955869A>G | NCBI36 |
| NG_008884.1:g.41263A>G | |
| NG_008884.2:g.48285A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1569A>G MANE Select | ENSP00000272286.2:p.Pro523= | |
| ENST00000272286.2:c.1569A>G | ENSP00000272286.2:p.Pro523= | |
| NM_022437.2:c.1569A>G | NP_071882.1:p.Pro523= | |
| XM_005264483.2:c.1566A>G | XP_005264540.1:p.Pro522= | |
| XM_011533029.1:c.1581A>G | XP_011531331.1:p.Pro527= | |
| XM_011533030.1:c.1578A>G | XP_011531332.1:p.Pro526= | |
| XM_011533031.1:c.1353A>G | XP_011531333.1:p.Pro451= | |
| XR_939707.1:n.2071A>G | ||
| NM_001357321.1:c.1566A>G | NP_001344250.1:p.Pro522= | |
| XM_011533029.2:c.1581A>G | XP_011531331.1:p.Pro527= | |
| XM_011533030.2:c.1578A>G | XP_011531332.1:p.Pro526= | |
| XR_001738891.1:n.2085A>G | ||
| XR_939707.2:n.2085A>G | ||
| NM_022437.3:c.1569A>G MANE Select | NP_071882.1:p.Pro523= | |
| NM_001357321.2:c.1566A>G | NP_001344250.1:p.Pro522= |