ClinVar Variation:
COSMIC:
COSM4489435
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00133928 (SAS)
Genomes Max Group AF
0.0006799 (SAS)
Exomes Max Group AF
0.00133945 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108879544G>A , CM000671.2:g.108879544G>A | GRCh38 |
| NC_000009.11:g.111641824G>A , CM000671.1:g.111641824G>A | GRCh37 |
| NC_000009.10:g.110681645G>A | NCBI36 |
| NG_008788.1:g.59785C>T , LRG_251:g.59785C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374647.10:c.3474C>T MANE Select | ENSP00000363779.5:p.Pro1158= | |
| ENST00000495759.6:c.*2084C>T | ENSP00000433514.2:n.*2084C>T | |
| ENST00000674535.1:c.3474C>T | ENSP00000502142.1:p.Pro1158= | |
| ENST00000674704.1:n.6559C>T | ||
| ENST00000674740.1:n.357C>T | ||
| ENST00000674836.1:n.4087C>T | ||
| ENST00000674890.1:c.*709C>T | ENSP00000501870.1:n.*709C>T | |
| ENST00000674938.1:c.3132C>T | ENSP00000502427.1:p.Pro1044= | |
| ENST00000674948.1:c.3132C>T | ENSP00000501602.1:p.Pro1044= | |
| ENST00000675052.1:c.3474C>T | ENSP00000502664.1:p.Pro1158= | |
| ENST00000675062.1:n.520C>T | ||
| ENST00000675078.1:c.3474C>T | ENSP00000501549.1:p.Pro1158= | |
| ENST00000675215.1:c.*2698C>T | ENSP00000502558.1:n.*2698C>T | |
| ENST00000675233.1:n.5301C>T | ||
| ENST00000675321.1:c.3460+508C>T | ENSP00000502751.1:n.3460+508C>T | |
| ENST00000675325.1:n.5431C>T | ||
| ENST00000675335.1:c.3505C>T | ENSP00000502182.1:n.3505C>T | |
| ENST00000675400.1:n.5326C>T | ||
| ENST00000675406.1:c.3474C>T | ENSP00000501893.1:p.Pro1158= | |
| ENST00000675458.1:c.3567C>T | ENSP00000501754.1:n.3567C>T | |
| ENST00000675507.1:n.5270C>T | ||
| ENST00000675535.1:c.*1101C>T | ENSP00000501667.1:n.*1101C>T | |
| ENST00000675566.1:n.5332C>T | ||
| ENST00000675580.1:n.627C>T | ||
| ENST00000675602.1:n.6522C>T | ||
| ENST00000675647.1:n.4638C>T | ||
| ENST00000675711.1:c.3591C>T | ENSP00000502485.1:n.3591C>T | |
| ENST00000675727.1:c.3474C>T | ENSP00000501722.1:p.Pro1158= | |
| ENST00000675748.1:n.5108C>T | ||
| ENST00000675765.1:c.*857C>T | ENSP00000502640.1:n.*857C>T | |
| ENST00000675825.1:c.3516C>T | ENSP00000502632.1:p.Pro1172= | |
| ENST00000675877.1:n.5318C>T | ||
| ENST00000675893.1:c.*4543C>T | ENSP00000502001.1:n.*4543C>T | |
| ENST00000675943.1:n.7089C>T | ||
| ENST00000675979.1:c.*2717C>T | ENSP00000502208.1:n.*2717C>T | |
| ENST00000676044.1:c.*1134C>T | ENSP00000502378.1:n.*1134C>T | |
| ENST00000676086.1:n.5259C>T | ||
| ENST00000676121.1:n.5302C>T | ||
| ENST00000676162.1:n.203C>T | ||
| ENST00000676237.1:c.3417C>T | ENSP00000501828.1:p.Pro1139= | |
| ENST00000676416.1:c.3174C>T | ENSP00000501660.1:p.Pro1058= | |
| ENST00000676424.1:n.5312C>T | ||
| ENST00000676429.1:n.7943C>T | ||
| ENST00000374647.9:c.3474C>T | ENSP00000363779.5:p.Pro1158= | |
| ENST00000467959.1:n.354C>T | ||
| ENST00000495759.5:c.614C>T | ||
| ENST00000537196.1:c.2427C>T | ENSP00000439367.1:p.Pro809= | |
| NM_003640.3:c.3474C>T , LRG_251t1:c.3474C>T | NP_003631.2:p.Pro1158= | |
| XM_005252285.2:c.3132C>T | XP_005252342.1:p.Pro1044= | |
| XM_011519136.1:c.3516C>T | XP_011517438.1:p.Pro1172= | |
| XM_011519137.1:c.3174C>T | XP_011517439.1:p.Pro1058= | |
| NM_001318360.1:c.3132C>T | NP_001305289.1:p.Pro1044= | |
| NM_001330749.1:c.2427C>T | NP_001317678.1:p.Pro809= | |
| NM_003640.4:c.3474C>T | NP_003631.2:p.Pro1158= | |
| XM_011519136.2:c.3516C>T | XP_011517438.1:p.Pro1172= | |
| XR_929859.3:n.3863C>T | ||
| NM_003640.5:c.3474C>T MANE Select | NP_003631.2:p.Pro1158= | |
| NM_001318360.2:c.3132C>T | NP_001305289.1:p.Pro1044= | |
| NM_001330749.2:c.2427C>T | NP_001317678.1:p.Pro809= |