gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00694919 (MID)
Genomes Max Group AF
0.00342764 (SAS)
Exomes Max Group AF
0.00536371 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96120399G>A , CM000669.2:g.96120399G>A | GRCh38 |
| NC_000007.13:g.95749711G>A , CM000669.1:g.95749711G>A | GRCh37 |
| NC_000007.12:g.95587647G>A | NCBI36 |
| NG_012247.1:g.206749C>T | |
| NG_012247.2:g.206749C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.*792C>T MANE Select | ENSP00000265631.6:n.*792C>T | |
| ENST00000265631.9:c.*792C>T | ENSP00000265631.5:n.*792C>T | |
| ENST00000416240.6:c.*792C>T | ENSP00000400101.2:n.*792C>T | |
| NM_001160210.1:c.*792C>T | NP_001153682.1:n.*792C>T | |
| NM_014251.2:c.*792C>T | NP_055066.1:n.*792C>T | |
| NR_027662.1:n.2895C>T | ||
| XM_006715831.2:c.*792C>T | XP_006715894.1:n.*792C>T | |
| XM_011515728.1:c.*792C>T | XP_011514030.1:n.*792C>T | |
| XM_006715831.4:c.*792C>T | XP_006715894.1:n.*792C>T | |
| XM_017011663.1:c.*792C>T | XP_016867152.1:n.*792C>T | |
| XM_017011664.2:c.*792C>T | XP_016867153.1:n.*792C>T | |
| XM_017011665.1:c.*792C>T | XP_016867154.1:n.*792C>T | |
| XR_001744525.2:n.3066C>T | ||
| XR_002956405.1:n.3624C>T | ||
| NM_014251.3:c.*792C>T MANE Select | NP_055066.1:n.*792C>T | |
| NR_027662.2:n.2846C>T | ||
| NM_001160210.2:c.*792C>T | NP_001153682.1:n.*792C>T |