gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04081336 (AMR)
Genomes Max Group AF
0.01753445 (AMR)
Exomes Max Group AF
0.04826833 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.85021350C>T , CM000671.2:g.85021350C>T | GRCh38 |
| NC_000009.11:g.87636265C>T , CM000671.1:g.87636265C>T | GRCh37 |
| NC_000009.10:g.86826085C>T | NCBI36 |
| NG_012201.2:g.357800C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323115.11:c.2346C>T | ENSP00000314586.5:p.Pro782= | |
| ENST00000686259.1:c.2382C>T | ENSP00000509743.1:p.Pro794= | |
| ENST00000686324.1:c.2430C>T | ENSP00000510134.1:p.Pro810= | |
| ENST00000686496.1:c.2382C>T | ENSP00000510060.1:p.Pro794= | |
| ENST00000686874.1:n.548C>T | ||
| ENST00000687386.1:c.2124+65833C>T | ENSP00000508723.1:n.2124+65833C>T | |
| ENST00000687690.1:n.695C>T | ||
| ENST00000688854.1:n.352C>T | ||
| ENST00000688978.1:n.1101C>T | ||
| ENST00000689301.1:c.1914C>T | ENSP00000510766.1:p.Pro638= | |
| ENST00000690044.1:n.434C>T | ||
| ENST00000691788.1:c.2382C>T | ENSP00000509401.1:p.Pro794= | |
| ENST00000692181.1:c.2382C>T | ENSP00000510619.1:p.Pro794= | |
| ENST00000692473.1:c.1962C>T | ENSP00000509020.1:p.Pro654= | |
| ENST00000277120.8:c.2430C>T MANE Select | ENSP00000277120.3:p.Pro810= | |
| ENST00000323115.10:c.2382C>T | ENSP00000314586.4:p.Pro794= | |
| ENST00000376213.6:c.2382C>T | ENSP00000365386.1:p.Pro794= | |
| ENST00000277120.7:c.2430C>T | ENSP00000277120.3:p.Pro810= | |
| ENST00000323115.8:c.2382C>T | ENSP00000314586.4:p.Pro794= | |
| ENST00000376213.5:c.2382C>T | ENSP00000365386.1:p.Pro794= | |
| ENST00000376214.5:c.2430C>T | ENSP00000365387.1:p.Pro810= | |
| NM_001018064.2:c.2382C>T | NP_001018074.1:p.Pro794= | |
| NM_006180.4:c.2430C>T | NP_006171.2:p.Pro810= | |
| XM_005252001.1:c.2430C>T | XP_005252058.1:p.Pro810= | |
| XM_005252003.1:c.2430C>T | XP_005252060.1:p.Pro810= | |
| XM_005252004.1:c.2430C>T | XP_005252061.1:p.Pro810= | |
| XM_011518718.1:c.2382C>T | XP_011517020.1:p.Pro794= | |
| XM_011518719.1:c.2382C>T | XP_011517021.1:p.Pro794= | |
| XM_005252001.3:c.2430C>T | XP_005252058.1:p.Pro810= | |
| XM_005252003.3:c.2430C>T | XP_005252060.1:p.Pro810= | |
| XM_005252004.2:c.2430C>T | XP_005252061.1:p.Pro810= | |
| XM_011518718.3:c.2382C>T | XP_011517020.1:p.Pro794= | |
| XM_017014751.2:c.2430C>T | XP_016870240.1:p.Pro810= | |
| XM_017014752.1:c.2382C>T | XP_016870241.1:p.Pro794= | |
| XM_017014753.2:c.2382C>T | XP_016870242.1:p.Pro794= | |
| XM_017014754.1:c.2382C>T | XP_016870243.1:p.Pro794= | |
| NM_001018064.3:c.2382C>T | NP_001018074.1:p.Pro794= | |
| NM_001369532.1:c.2382C>T | NP_001356461.1:p.Pro794= | |
| NM_001369533.1:c.2382C>T | NP_001356462.1:p.Pro794= | |
| NM_001369534.1:c.2346C>T | NP_001356463.1:p.Pro782= | |
| NM_001369535.1:c.1914C>T | NP_001356464.1:p.Pro638= | |
| NM_001369536.1:c.1962C>T | NP_001356465.1:p.Pro654= | |
| NM_006180.5:c.2430C>T | NP_006171.2:p.Pro810= | |
| NM_006180.6:c.2430C>T MANE Select | NP_006171.2:p.Pro810= |