gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000058 (MID)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.0000651 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2925365C>T , CM000680.2:g.2925365C>T | GRCh38 |
| NC_000018.9:g.2925363C>T , CM000680.1:g.2925363C>T | GRCh37 |
| NC_000018.8:g.2915363C>T | NCBI36 |
| NG_007507.1:g.91583G>A , LRG_174:g.91583G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261596.9:c.1797G>A | ENSP00000261596.4:p.Pro599= | |
| ENST00000697039.1:c.1797G>A | ENSP00000513061.1:p.Pro599= | |
| ENST00000697040.1:c.1797G>A | ENSP00000513062.1:p.Pro599= | |
| ENST00000697041.1:c.492G>A | ENSP00000513063.1:p.Pro164= | |
| ENST00000697042.1:c.1797G>A | ENSP00000513064.1:p.Pro599= | |
| ENST00000677752.1:c.1797G>A MANE Select | ENSP00000504857.1:p.Pro599= | |
| ENST00000261596.8:c.1797G>A | ENSP00000261596.4:p.Pro599= | |
| NM_014646.2:c.1797G>A , LRG_174t1:c.1797G>A | NP_055461.1:p.Pro599= | |
| XM_005258177.3:c.1908G>A | XP_005258234.1:p.Pro636= | |
| XM_005258178.2:c.1797G>A | XP_005258235.1:p.Pro599= | |
| XM_005258179.3:c.1797G>A | XP_005258236.1:p.Pro599= | |
| XM_005258177.4:c.1908G>A | XP_005258234.1:p.Pro636= | |
| XM_005258178.3:c.1797G>A | XP_005258235.1:p.Pro599= | |
| XM_005258179.5:c.1797G>A | XP_005258236.1:p.Pro599= | |
| XM_017026098.1:c.1797G>A | XP_016881587.1:p.Pro599= | |
| XM_017026099.1:c.1797G>A | XP_016881588.1:p.Pro599= | |
| NM_001375808.1:c.1797G>A | NP_001362737.1:p.Pro599= | |
| NM_001375809.1:c.1797G>A | NP_001362738.1:p.Pro599= | |
| NM_001375808.2:c.1797G>A MANE Select | NP_001362737.1:p.Pro599= |