gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62356911 (SAS)
Genomes Max Group AF
0.61466653 (SAS)
Exomes Max Group AF
0.62314294 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127741791G>A , CM000671.2:g.127741791G>A | GRCh38 |
| NC_000009.11:g.130504070G>A , CM000671.1:g.130504070G>A | GRCh37 |
| NC_000009.10:g.129543891G>A | NCBI36 |
| NG_030563.1:g.41979C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314830.13:c.2085C>T MANE Select | ENSP00000317817.8:p.Ala695= | |
| ENST00000314830.12:c.2085C>T | ENSP00000317817.8:p.Ala695= | |
| ENST00000373276.7:c.1881C>T | ENSP00000362373.3:p.Ala627= | |
| ENST00000373277.8:c.1614C>T | ENSP00000362374.4:p.Ala538= | |
| ENST00000420366.5:c.1611C>T | ENSP00000388536.1:p.Ala537= | |
| ENST00000429553.5:c.1023C>T | ENSP00000394632.1:p.Ala341= | |
| ENST00000629203.2:c.1605C>T | ENSP00000485866.1:p.Ala535= | |
| NM_001142531.1:c.1023C>T | NP_001136003.1:p.Ala341= | |
| NM_001142532.1:c.1023C>T | NP_001136004.1:p.Ala341= | |
| NM_001142533.1:c.1611C>T | NP_001136005.1:p.Ala537= | |
| NM_001142534.1:c.1605C>T | NP_001136006.1:p.Ala535= | |
| NM_001252334.1:c.1881C>T | NP_001239263.1:p.Ala627= | |
| NM_005489.3:c.1614C>T | NP_005480.2:p.Ala538= | |
| NM_170600.2:c.2085C>T | NP_733745.1:p.Ala695= | |
| XM_005251639.1:c.1023C>T | XP_005251696.1:p.Ala341= | |
| XM_011518114.1:c.1917C>T | XP_011516416.1:p.Ala639= | |
| XM_011518115.1:c.1917C>T | XP_011516417.1:p.Ala639= | |
| XM_011518116.1:c.1917C>T | XP_011516418.1:p.Ala639= | |
| XM_011518117.1:c.1023C>T | XP_011516419.1:p.Ala341= | |
| XM_011518114.2:c.1917C>T | XP_011516416.1:p.Ala639= | |
| XM_011518115.2:c.1917C>T | XP_011516417.1:p.Ala639= | |
| XM_011518117.3:c.1023C>T | XP_011516419.1:p.Ala341= | |
| NM_170600.3:c.2085C>T MANE Select | NP_733745.1:p.Ala695= | |
| NM_005489.4:c.1614C>T | NP_005480.2:p.Ala538= | |
| NM_001252334.2:c.1881C>T | NP_001239263.1:p.Ala627= |