COSMIC:
COSM4985855 (not active)
Revel Score:
ENST00000205890
0.796
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0044641 (NFE)
Genomes Max Group AF
0.00437737 (NFE)
Exomes Max Group AF
0.00444604 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18148133C>T , CM000679.2:g.18148133C>T | GRCh38 |
| NC_000017.10:g.18051447C>T , CM000679.1:g.18051447C>T | GRCh37 |
| NC_000017.9:g.17992172C>T | NCBI36 |
| NG_011634.1:g.44428C>T | |
| NG_011634.2:g.44428C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.6614C>T MANE Select | ENSP00000495481.1:p.Thr2205Ile | |
| ENST00000205890.9:c.6614C>T | ENSP00000205890.5:p.Thr2205Ile | |
| ENST00000578999.1:n.199C>T | ||
| ENST00000615845.4:c.6614C>T | ENSP00000481642.1:p.Thr2205Ile | |
| NM_016239.3:c.6614C>T | NP_057323.3:p.Thr2205Ile | |
| XM_011523917.1:c.6554C>T | XP_011522219.1:p.Thr2185Ile | |
| XM_011523918.1:c.*93C>T | XP_011522220.1:n.*93C>T | |
| XM_011523921.1:c.6608C>T | XP_011522223.1:p.Thr2203Ile | |
| XR_934037.1:n.7213C>T | ||
| XR_934038.1:n.7213C>T | ||
| XR_934293.1:n.435-527G>A | ||
| XR_934295.1:n.254-527G>A | ||
| XM_017024714.2:c.6554C>T | XP_016880203.1:p.Thr2185Ile | |
| XM_017024715.2:c.6617C>T | XP_016880204.1:p.Thr2206Ile | |
| XR_934293.2:n.378-527G>A | ||
| NM_016239.4:c.6614C>T MANE Select | NP_057323.3:p.Thr2205Ile |