ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00040485 (NFE)
Genomes Max Group AF
0.00030436 (NFE)
Exomes Max Group AF
0.00040443 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121112518C>G , CM000668.2:g.121112518C>G | GRCh38 |
| NC_000006.11:g.121433664C>G , CM000668.1:g.121433664C>G | GRCh37 |
| NC_000006.10:g.121475363C>G | NCBI36 |
| NG_034203.1:g.226983G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275159.11:c.3434G>C | ENSP00000275159.6:p.Arg1145Thr | |
| ENST00000398212.7:c.3311G>C MANE Select | ENSP00000381270.2:p.Arg1104Thr | |
| ENST00000275159.10:c.3434G>C | ENSP00000275159.6:p.Arg1145Thr | |
| ENST00000368464.7:n.403G>C | ||
| ENST00000398197.6:n.950G>C | ||
| ENST00000398212.6:c.3311G>C | ENSP00000381270.2:p.Arg1104Thr | |
| ENST00000464622.5:c.*3951G>C | ENSP00000428839.1:n.*3951G>C | |
| ENST00000509492.2:c.622G>C | ENSP00000429928.1:n.622G>C | |
| NM_152730.5:c.3311G>C | NP_689943.4:p.Arg1104Thr | |
| NR_104452.1:n.4348G>C | ||
| XM_005266861.2:c.3434G>C | XP_005266918.1:p.Arg1145Thr | |
| XM_011535569.1:c.3497G>C | XP_011533871.1:p.Arg1166Thr | |
| XM_011535570.1:c.3497G>C | XP_011533872.1:p.Arg1166Thr | |
| XM_011535571.1:c.3497G>C | XP_011533873.1:p.Arg1166Thr | |
| XM_011535572.1:c.3374G>C | XP_011533874.1:p.Arg1125Thr | |
| XM_011535573.1:c.3371G>C | XP_011533875.1:p.Arg1124Thr | |
| XM_011535574.1:c.3170G>C | XP_011533876.1:p.Arg1057Thr | |
| XM_011535579.1:c.2318G>C | XP_011533881.1:p.Arg773Thr | |
| XM_011535580.1:c.2318G>C | XP_011533882.1:p.Arg773Thr | |
| XR_942343.1:n.3567G>C | ||
| XM_005266861.3:c.3434G>C | XP_005266918.1:p.Arg1145Thr | |
| XM_011535569.2:c.3497G>C | XP_011533871.1:p.Arg1166Thr | |
| XM_011535571.3:c.3497G>C | XP_011533873.1:p.Arg1166Thr | |
| XM_011535580.2:c.2318G>C | XP_011533882.1:p.Arg773Thr | |
| XM_017010397.1:c.3434G>C | XP_016865886.1:p.Arg1145Thr | |
| XM_017010398.2:c.3434G>C | XP_016865887.1:p.Arg1145Thr | |
| XM_017010399.1:c.3374G>C | XP_016865888.1:p.Arg1125Thr | |
| XM_017010400.1:c.3371G>C | XP_016865889.1:p.Arg1124Thr | |
| XM_017010401.1:c.3311G>C | XP_016865890.1:p.Arg1104Thr | |
| XM_017010404.1:c.1685G>C | XP_016865893.1:p.Arg562Thr | |
| XR_001743231.1:n.3615G>C | ||
| NM_001367759.1:c.3434G>C | NP_001354688.1:p.Arg1145Thr | |
| NM_001367760.1:c.3434G>C | NP_001354689.1:p.Arg1145Thr | |
| NM_152730.6:c.3311G>C MANE Select | NP_689943.4:p.Arg1104Thr | |
| NR_104452.2:n.4328G>C |