gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.86935069 (EAS)
Genomes Max Group AF
0.85334209 (EAS)
Exomes Max Group AF
0.86915208 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24823221T>C , CM000664.2:g.24823221T>C | GRCh38 |
| NC_000002.11:g.25046090T>C , CM000664.1:g.25046090T>C | GRCh37 |
| NC_000002.10:g.24899594T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405392.6:c.2874A>G | ENSP00000384484.2:p.Ser958= | |
| ENST00000679454.1:c.2871A>G MANE Select | ENSP00000505261.1:p.Ser957= | |
| ENST00000260600.9:c.2871A>G | ENSP00000260600.5:p.Ser957= | |
| ENST00000405392.5:c.2874A>G | ENSP00000384484.2:p.Ser958= | |
| ENST00000485887.1:n.143A>G | ||
| ENST00000606682.5:c.1812A>G | ENSP00000475652.1:p.Ser604= | |
| NM_004036.3:c.2871A>G | NP_004027.2:p.Ser957= | |
| XM_005264104.1:c.2874A>G | XP_005264161.1:p.Ser958= | |
| XM_005264105.1:c.2871A>G | XP_005264162.1:p.Ser957= | |
| XM_006711925.1:c.2940A>G | XP_006711988.1:p.Ser980= | |
| XM_011532489.1:c.2997A>G | XP_011530791.1:p.Ser999= | |
| XM_011532490.1:c.2994A>G | XP_011530792.1:p.Ser998= | |
| XM_011532491.1:c.2931A>G | XP_011530793.1:p.Ser977= | |
| XM_011532492.1:c.2997A>G | XP_011530794.1:p.Ser999= | |
| XM_011532493.1:c.2859A>G | XP_011530795.1:p.Ser953= | |
| XM_011532494.1:c.2799A>G | XP_011530796.1:p.Ser933= | |
| XM_011532495.1:c.2331A>G | XP_011530797.1:p.Ser777= | |
| XM_011532496.1:c.2274A>G | XP_011530798.1:p.Ser758= | |
| NM_001320613.1:c.2874A>G | NP_001307542.1:p.Ser958= | |
| NM_004036.4:c.2871A>G | NP_004027.2:p.Ser957= | |
| XM_011532492.2:c.2997A>G | XP_011530794.1:p.Ser999= | |
| XM_017003186.1:c.2937A>G | XP_016858675.1:p.Ser979= | |
| XM_017003187.1:c.2928A>G | XP_016858676.1:p.Ser976= | |
| XM_017003188.1:c.2994A>G | XP_016858677.1:p.Ser998= | |
| XM_017003189.1:c.2856A>G | XP_016858678.1:p.Ser952= | |
| XM_017003190.1:c.2733A>G | XP_016858679.1:p.Ser911= | |
| XM_017003191.1:c.2361A>G | XP_016858680.1:p.Ser787= | |
| XM_017003192.1:c.2151A>G | XP_016858681.1:p.Ser717= | |
| XM_017003193.1:c.2148A>G | XP_016858682.1:p.Ser716= | |
| NM_001320613.2:c.2874A>G | NP_001307542.1:p.Ser958= | |
| NM_001377128.1:c.2937A>G | NP_001364057.1:p.Ser979= | |
| NM_001377129.1:c.2733A>G | NP_001364058.1:p.Ser911= | |
| NM_001377130.1:c.2332-591A>G | NP_001364059.1:n.2332-591A>G | |
| NM_001377131.1:c.2148A>G | NP_001364060.1:p.Ser716= | |
| NM_001377132.1:c.2871A>G | NP_001364061.1:p.Ser957= | |
| NM_004036.5:c.2871A>G MANE Select | NP_004027.2:p.Ser957= |