gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7065308 (EAS)
Genomes Max Group AF
0.71349291 (EAS)
Exomes Max Group AF
0.70347896 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24841324G>A , CM000664.2:g.24841324G>A | GRCh38 |
| NC_000002.11:g.25064193G>A , CM000664.1:g.25064193G>A | GRCh37 |
| NC_000002.10:g.24917697G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405392.6:c.1131C>T | ENSP00000384484.2:p.Pro377= | |
| ENST00000679454.1:c.1131C>T MANE Select | ENSP00000505261.1:p.Pro377= | |
| ENST00000260600.9:c.1131C>T | ENSP00000260600.5:p.Pro377= | |
| ENST00000405392.5:c.1131C>T | ENSP00000384484.2:p.Pro377= | |
| ENST00000427849.5:c.399C>T | ENSP00000399275.1:p.Pro133= | |
| ENST00000435135.5:c.981C>T | ENSP00000389799.1:p.Pro327= | |
| ENST00000479517.1:n.514C>T | ||
| ENST00000606682.5:c.144C>T | ENSP00000475652.1:p.Pro48= | |
| NM_004036.3:c.1131C>T | NP_004027.2:p.Pro377= | |
| XM_005264104.1:c.1131C>T | XP_005264161.1:p.Pro377= | |
| XM_005264105.1:c.1131C>T | XP_005264162.1:p.Pro377= | |
| XM_006711925.1:c.1131C>T | XP_006711988.1:p.Pro377= | |
| XM_011532489.1:c.1131C>T | XP_011530791.1:p.Pro377= | |
| XM_011532490.1:c.1131C>T | XP_011530792.1:p.Pro377= | |
| XM_011532491.1:c.1131C>T | XP_011530793.1:p.Pro377= | |
| XM_011532492.1:c.1131C>T | XP_011530794.1:p.Pro377= | |
| XM_011532493.1:c.1131C>T | XP_011530795.1:p.Pro377= | |
| XM_011532494.1:c.1131C>T | XP_011530796.1:p.Pro377= | |
| XM_011532495.1:c.465C>T | XP_011530797.1:p.Pro155= | |
| XM_011532496.1:c.408C>T | XP_011530798.1:p.Pro136= | |
| NM_001320613.1:c.1131C>T | NP_001307542.1:p.Pro377= | |
| NM_004036.4:c.1131C>T | NP_004027.2:p.Pro377= | |
| XM_011532492.2:c.1131C>T | XP_011530794.1:p.Pro377= | |
| XM_017003186.1:c.1131C>T | XP_016858675.1:p.Pro377= | |
| XM_017003187.1:c.1131C>T | XP_016858676.1:p.Pro377= | |
| XM_017003188.1:c.1131C>T | XP_016858677.1:p.Pro377= | |
| XM_017003189.1:c.1131C>T | XP_016858678.1:p.Pro377= | |
| XM_017003190.1:c.1131C>T | XP_016858679.1:p.Pro377= | |
| XM_017003191.1:c.495C>T | XP_016858680.1:p.Pro165= | |
| XM_017003192.1:c.408C>T | XP_016858681.1:p.Pro136= | |
| XM_017003193.1:c.408C>T | XP_016858682.1:p.Pro136= | |
| NM_001320613.2:c.1131C>T | NP_001307542.1:p.Pro377= | |
| NM_001377128.1:c.1131C>T | NP_001364057.1:p.Pro377= | |
| NM_001377129.1:c.1131C>T | NP_001364058.1:p.Pro377= | |
| NM_001377130.1:c.1131C>T | NP_001364059.1:p.Pro377= | |
| NM_001377131.1:c.408C>T | NP_001364060.1:p.Pro136= | |
| NM_001377132.1:c.1131C>T | NP_001364061.1:p.Pro377= | |
| NM_004036.5:c.1131C>T MANE Select | NP_004027.2:p.Pro377= |