gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00032172 (AFR)
Genomes Max Group AF
0.00031976 (AFR)
Exomes Max Group AF
0.00022961 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36985853C>T , CM000667.2:g.36985853C>T | GRCh38 |
| NC_000005.9:g.36985955C>T , CM000667.1:g.36985955C>T | GRCh37 |
| NC_000005.8:g.37021712C>T | NCBI36 |
| NG_006987.1:g.113971C>T | |
| NG_006987.2:g.113971C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.2673C>T MANE Select | ENSP00000282516.8:p.Asp891= | |
| ENST00000652901.1:c.2673C>T | ENSP00000499536.1:p.Asp891= | |
| ENST00000282516.12:c.2673C>T | ENSP00000282516.8:p.Asp891= | |
| ENST00000448238.2:c.2673C>T | ENSP00000406266.2:p.Asp891= | |
| ENST00000504430.5:n.2293C>T | ||
| ENST00000621733.1:c.1-78725C>T | ENSP00000480694.1:n.1-78725C>T | |
| NM_015384.4:c.2673C>T | NP_056199.2:p.Asp891= | |
| NM_133433.3:c.2673C>T | NP_597677.2:p.Asp891= | |
| XM_005248280.2:c.2673C>T | XP_005248337.1:p.Asp891= | |
| XM_005248282.3:c.1929C>T | XP_005248339.2:p.Asp643= | |
| XM_006714467.2:c.2673C>T | XP_006714530.1:p.Asp891= | |
| XM_006714468.1:c.2673C>T | XP_006714531.1:p.Asp891= | |
| XM_011514014.1:c.2673C>T | XP_011512316.1:p.Asp891= | |
| XM_011514015.1:c.2673C>T | XP_011512317.1:p.Asp891= | |
| XM_005248280.3:c.2673C>T | XP_005248337.1:p.Asp891= | |
| XM_005248282.5:c.2013C>T | XP_005248339.3:p.Asp671= | |
| XM_006714468.2:c.2673C>T | XP_006714531.1:p.Asp891= | |
| XM_017009329.1:c.2673C>T | XP_016864818.1:p.Asp891= | |
| XM_017009330.2:c.1056C>T | XP_016864819.1:p.Asp352= | |
| XM_017009331.1:c.1495+9451C>T | XP_016864820.1:n.1495+9451C>T | |
| NM_133433.4:c.2673C>T MANE Select | NP_597677.2:p.Asp891= | |
| NM_015384.5:c.2673C>T | NP_056199.2:p.Asp891= |