gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.96330644 (AFR)
Genomes Max Group AF
0.96159713 (AFR)
Exomes Max Group AF
0.95998557 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45775926A>G , CM000665.2:g.45775926A>G | GRCh38 |
| NC_000003.11:g.45817418A>G , CM000665.1:g.45817418A>G | GRCh37 |
| NC_000003.10:g.45792422A>G | NCBI36 |
| NG_023204.1:g.25618T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703343.1:c.417T>C | ENSP00000515266.1:p.Cys139= | |
| ENST00000703344.1:n.489T>C | ||
| ENST00000358525.9:c.417T>C MANE Select | ENSP00000346298.4:p.Cys139= | |
| ENST00000353278.8:c.417T>C | ENSP00000296133.5:p.Cys139= | |
| ENST00000358525.8:c.417T>C | ENSP00000346298.4:p.Cys139= | |
| ENST00000413781.1:c.276T>C | ENSP00000395506.1:p.Cys92= | |
| ENST00000456124.6:c.417T>C | ENSP00000404310.2:p.Cys139= | |
| NM_020208.3:c.417T>C | NP_064593.1:p.Cys139= | |
| NM_022405.3:c.417T>C | NP_071800.1:p.Cys139= | |
| XM_005265236.2:c.417T>C | XP_005265293.1:p.Cys139= | |
| XM_011533847.1:c.120T>C | XP_011532149.1:p.Cys40= | |
| XM_011533848.1:c.417T>C | XP_011532150.1:p.Cys139= | |
| XM_011533847.2:c.120T>C | XP_011532149.1:p.Cys40= | |
| XM_011533848.2:c.417T>C | XP_011532150.1:p.Cys139= | |
| NM_020208.4:c.417T>C MANE Select | NP_064593.1:p.Cys139= | |
| NM_022405.4:c.417T>C | NP_071800.1:p.Cys139= | |
| NM_001385683.1:c.417T>C | NP_001372612.1:p.Cys139= |