gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00033309 (SAS)
Genomes Max Group AF
0.00018204 (NFE)
Exomes Max Group AF
0.00032119 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123682237C>T , CM000665.2:g.123682237C>T | GRCh38 |
| NC_000003.11:g.123401084C>T , CM000665.1:g.123401084C>T | GRCh37 |
| NC_000003.10:g.124883774C>T | NCBI36 |
| NG_029111.1:g.207066G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346322.10:c.3432G>A | ENSP00000320622.6:p.Val1144= | |
| ENST00000504946.6:c.1249G>A | ||
| ENST00000508240.2:c.39G>A | ENSP00000422984.2:p.Val13= | |
| ENST00000511058.2:n.228G>A | ||
| ENST00000684879.1:n.1271G>A | ||
| ENST00000685021.1:c.873G>A | ENSP00000508447.1:p.Val291= | |
| ENST00000685259.1:c.1177G>A | ||
| ENST00000685907.1:n.1420G>A | ||
| ENST00000685953.1:c.39G>A | ENSP00000510593.1:p.Val13= | |
| ENST00000686039.1:c.1177G>A | ||
| ENST00000686245.1:c.756G>A | ENSP00000509313.1:p.Val252= | |
| ENST00000686406.1:c.3639G>A | ENSP00000509044.1:p.Val1213= | |
| ENST00000686761.1:c.3639G>A | ENSP00000508758.1:p.Val1213= | |
| ENST00000686822.1:n.3533G>A | ||
| ENST00000687434.1:c.39G>A | ENSP00000509751.1:p.Val13= | |
| ENST00000687709.1:n.904G>A | ||
| ENST00000687848.1:c.3669G>A | ENSP00000508761.1:p.Val1223= | |
| ENST00000688024.1:c.873G>A | ENSP00000509803.1:p.Val291= | |
| ENST00000688223.1:c.873G>A | ENSP00000508935.1:p.Val291= | |
| ENST00000689227.1:c.1312G>A | ||
| ENST00000689868.1:n.1367G>A | ||
| ENST00000690167.1:n.1310G>A | ||
| ENST00000690457.1:c.2877G>A | ENSP00000508777.1:p.Val959= | |
| ENST00000690534.1:n.160G>A | ||
| ENST00000691933.1:c.1177G>A | ||
| ENST00000692352.1:c.1177G>A | ||
| ENST00000693689.1:c.3432G>A | ENSP00000510503.1:p.Val1144= | |
| ENST00000360304.8:c.3639G>A MANE Select | ENSP00000353452.3:p.Val1213= | |
| ENST00000346322.9:c.3432G>A | ENSP00000320622.5:p.Val1144= | |
| ENST00000354792.9:c.3432G>A | ENSP00000346846.6:p.Val1144= | |
| ENST00000359169.5:c.3639G>A | ENSP00000352088.1:p.Val1213= | |
| ENST00000360304.7:c.3639G>A | ENSP00000353452.3:p.Val1213= | |
| ENST00000360772.7:c.3639G>A | ENSP00000354004.3:p.Val1213= | |
| ENST00000464489.5:c.*3218G>A | ENSP00000417798.1:n.*3218G>A | |
| ENST00000475616.5:c.3639G>A | ENSP00000418335.1:p.Val1213= | |
| ENST00000504946.5:n.1197G>A | ||
| ENST00000508240.1:c.39G>A | ENSP00000422984.1:p.Val13= | |
| ENST00000510775.5:n.357G>A | ||
| ENST00000511058.1:n.74G>A | ||
| NM_053025.3:c.3639G>A | NP_444253.3:p.Val1213= | |
| NM_053026.3:c.3432G>A | NP_444254.3:p.Val1144= | |
| NM_053027.3:c.3639G>A | NP_444255.3:p.Val1213= | |
| NM_053028.3:c.3432G>A | NP_444256.3:p.Val1144= | |
| XM_011512860.1:c.3639G>A | XP_011511162.1:p.Val1213= | |
| XM_011512861.1:c.3639G>A | XP_011511163.1:p.Val1213= | |
| XM_011512862.1:c.3111G>A | XP_011511164.1:p.Val1037= | |
| NM_001321309.1:c.3111G>A | NP_001308238.1:p.Val1037= | |
| XM_011512860.3:c.3669G>A | XP_011511162.2:p.Val1223= | |
| XM_011512861.3:c.3669G>A | XP_011511163.2:p.Val1223= | |
| XM_017006469.2:c.873G>A | XP_016861958.1:p.Val291= | |
| XM_017006470.2:c.39G>A | XP_016861959.1:p.Val13= | |
| XM_017006471.2:c.39G>A | XP_016861960.1:p.Val13= | |
| XM_024453532.1:c.3669G>A | XP_024309300.1:p.Val1223= | |
| XM_024453533.1:c.3639G>A | XP_024309301.1:p.Val1213= | |
| XM_024453534.1:c.3462G>A | XP_024309302.1:p.Val1154= | |
| XM_024453535.1:c.3432G>A | XP_024309303.1:p.Val1144= | |
| XM_024453536.1:c.3639G>A | XP_024309304.1:p.Val1213= | |
| XM_024453537.1:c.3639G>A | XP_024309305.1:p.Val1213= | |
| NM_001321309.2:c.3111G>A | NP_001308238.1:p.Val1037= | |
| NM_053025.4:c.3639G>A MANE Select | NP_444253.3:p.Val1213= | |
| NM_053026.4:c.3432G>A | NP_444254.3:p.Val1144= | |
| NM_053027.4:c.3639G>A | NP_444255.3:p.Val1213= | |
| NM_053028.4:c.3432G>A | NP_444256.3:p.Val1144= |