COSMIC:
COSM4158116 (not active)
Revel Score:
ENST00000328333
0.104
ENST00000454817
0.104
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21361345 (SAS)
Genomes Max Group AF
0.21391815 (SAS)
Exomes Max Group AF
0.21304946 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48590581G>A , CM000665.2:g.48590581G>A | GRCh38 |
| NC_000003.11:g.48628014G>A , CM000665.1:g.48628014G>A | GRCh37 |
| NC_000003.10:g.48603018G>A | NCBI36 |
| NG_007065.1:g.9672C>T , LRG_286:g.9672C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.1784C>T MANE Select | ENSP00000506558.1:p.Pro595Leu | |
| ENST00000328333.12:c.1784C>T | ENSP00000332371.8:p.Pro595Leu | |
| NM_000094.3:c.1784C>T , LRG_286t1:c.1784C>T | NP_000085.1:p.Pro595Leu | |
| XM_011533336.1:c.1784C>T | XP_011531638.1:p.Pro595Leu | |
| XM_011533337.1:c.1784C>T | XP_011531639.1:p.Pro595Leu | |
| XM_011533338.1:c.1784C>T | XP_011531640.1:p.Pro595Leu | |
| XM_011533339.1:c.1784C>T | XP_011531641.1:p.Pro595Leu | |
| XM_011533340.1:c.1784C>T | XP_011531642.1:p.Pro595Leu | |
| XM_011533341.1:c.1784C>T | XP_011531643.1:p.Pro595Leu | |
| XM_011533342.1:c.1784C>T | XP_011531644.1:p.Pro595Leu | |
| XR_940369.1:n.1820C>T | ||
| XR_940370.1:n.1820C>T | ||
| XR_940371.1:n.1820C>T | ||
| XR_940372.1:n.1820C>T | ||
| XR_940373.1:n.1820C>T | ||
| XR_940374.1:n.1820C>T | ||
| XR_940375.1:n.1820C>T | ||
| XM_017005688.1:c.1784C>T | XP_016861177.1:p.Pro595Leu | |
| XM_017005689.1:c.1784C>T | XP_016861178.1:p.Pro595Leu | |
| XM_017005690.1:c.1784C>T | XP_016861179.1:p.Pro595Leu | |
| XM_017005691.1:c.1784C>T | XP_016861180.1:p.Pro595Leu | |
| XM_017005692.1:c.1784C>T | XP_016861181.1:p.Pro595Leu | |
| XR_001740003.1:n.1820C>T | ||
| XR_001740004.1:n.1820C>T | ||
| XR_001740005.1:n.1820C>T | ||
| XR_001740006.1:n.1820C>T | ||
| XR_001740007.1:n.1820C>T | ||
| XR_001740008.1:n.1820C>T | ||
| XR_001740009.1:n.1820C>T | ||
| NM_000094.4:c.1784C>T MANE Select | NP_000085.1:p.Pro595Leu |