gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33460026 (AFR)
Genomes Max Group AF
0.33240106 (AFR)
Exomes Max Group AF
0.33539996 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88728340A>G , CM000666.2:g.88728340A>G | GRCh38 |
| NC_000004.11:g.89649491A>G , CM000666.1:g.89649491A>G | GRCh37 |
| NC_000004.10:g.89868514A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264344.10:c.*193T>C (FAM13A) MANE Select | ENSP00000264344.5:n.*193T>C | |
| ENST00000264344.9:c.*193T>C (FAM13A) | ENSP00000264344.5:n.*193T>C | |
| ENST00000395002.6:c.*193T>C (FAM13A) | ENSP00000378450.2:n.*193T>C | |
| ENST00000503556.5:c.*193T>C (FAM13A) | ENSP00000427189.1:n.*193T>C | |
| ENST00000508369.5:c.*193T>C (FAM13A) | ENSP00000421562.1:n.*193T>C | |
| ENST00000509478.5:n.1015T>C (FAM13A) | ||
| ENST00000511573.5:n.2171T>C (FAM13A) | ||
| ENST00000511976.5:c.*193T>C (FAM13A) | ENSP00000421914.1:n.*193T>C | |
| ENST00000513837.5:c.*193T>C (FAM13A) | ENSP00000423252.1:n.*193T>C | |
| NM_001015045.2:c.*193T>C (FAM13A) | NP_001015045.1:n.*193T>C | |
| NM_001265578.1:c.*193T>C (FAM13A) | NP_001252507.1:n.*193T>C | |
| NM_001265579.1:c.*193T>C (FAM13A) | NP_001252508.1:n.*193T>C | |
| NM_001265580.1:c.*193T>C (FAM13A) | NP_001252509.1:n.*193T>C | |
| NM_014883.3:c.*193T>C (FAM13A) | NP_055698.2:n.*193T>C | |
| NR_002806.2:n.1447A>G (FAM13A-AS1) | ||
| XM_005262681.2:c.*193T>C (FAM13A) | XP_005262738.1:n.*193T>C | |
| XM_005262682.2:c.*193T>C (FAM13A) | XP_005262739.1:n.*193T>C | |
| XM_005262683.2:c.*193T>C (FAM13A) | XP_005262740.1:n.*193T>C | |
| XM_005262684.2:c.*193T>C (FAM13A) | XP_005262741.1:n.*193T>C | |
| XM_006714057.2:c.*193T>C (FAM13A) | XP_006714120.1:n.*193T>C | |
| XM_011531516.1:c.*193T>C (FAM13A) | XP_011529818.1:n.*193T>C | |
| XM_011531517.1:c.*193T>C (FAM13A) | XP_011529819.1:n.*193T>C | |
| XM_011531518.1:c.*193T>C (FAM13A) | XP_011529820.1:n.*193T>C | |
| XM_011531519.1:c.*193T>C (FAM13A) | XP_011529821.1:n.*193T>C | |
| XM_011531520.1:c.*193T>C (FAM13A) | XP_011529822.1:n.*193T>C | |
| XM_005262681.3:c.*193T>C (FAM13A) | XP_005262738.1:n.*193T>C | |
| XM_005262683.3:c.*193T>C (FAM13A) | XP_005262740.1:n.*193T>C | |
| XM_005262684.4:c.*193T>C (FAM13A) | XP_005262741.1:n.*193T>C | |
| XM_006714057.3:c.*193T>C (FAM13A) | XP_006714120.1:n.*193T>C | |
| XM_011531517.2:c.*193T>C (FAM13A) | XP_011529819.1:n.*193T>C | |
| XM_011531519.3:c.*193T>C (FAM13A) | XP_011529821.1:n.*193T>C | |
| XM_017007624.2:c.*193T>C (FAM13A) | XP_016863113.1:n.*193T>C | |
| XM_017007625.1:c.*193T>C (FAM13A) | XP_016863114.1:n.*193T>C | |
| XM_017007626.1:c.*193T>C (FAM13A) | XP_016863115.1:n.*193T>C | |
| XM_017007627.1:c.*193T>C (FAM13A) | XP_016863116.1:n.*193T>C | |
| XM_017007628.2:c.*193T>C (FAM13A) | XP_016863117.1:n.*193T>C | |
| XM_017007629.2:c.*193T>C (FAM13A) | XP_016863118.1:n.*193T>C | |
| XM_017007630.2:c.*193T>C (FAM13A) | XP_016863119.1:n.*193T>C | |
| XM_017007631.2:c.*193T>C (FAM13A) | XP_016863120.1:n.*193T>C | |
| XM_017007632.2:c.*193T>C (FAM13A) | XP_016863121.1:n.*193T>C | |
| XM_017007633.2:c.*193T>C (FAM13A) | XP_016863122.1:n.*193T>C | |
| XM_017007634.2:c.*193T>C (FAM13A) | XP_016863123.1:n.*193T>C | |
| NM_014883.4:c.*193T>C (FAM13A) MANE Select | NP_055698.2:n.*193T>C | |
| NM_001015045.3:c.*193T>C (FAM13A) | NP_001015045.1:n.*193T>C | |
| NM_001265578.2:c.*193T>C (FAM13A) | NP_001252507.1:n.*193T>C | |
| NM_001265579.2:c.*193T>C (FAM13A) | NP_001252508.1:n.*193T>C | |
| NM_001265580.2:c.*193T>C (FAM13A) | NP_001252509.1:n.*193T>C |