COSMIC:
COSM3721683 (not active)
COSM3721684 (not active)
Revel Score:
ENST00000344938
0.162
ENST00000310917
0.162
ENST00000344408 (MANE Select)
0.162
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79119517 (AFR)
Genomes Max Group AF
0.7807014 (AFR)
Exomes Max Group AF
0.79926371 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5622943T>C , CM000666.2:g.5622943T>C | GRCh38 |
| NC_000004.11:g.5624670T>C , CM000666.1:g.5624670T>C | GRCh37 |
| NC_000004.10:g.5675571T>C | NCBI36 |
| NG_015821.1:g.91606A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.2095A>G MANE Select | ENSP00000342144.5:p.Thr699Ala | |
| ENST00000310917.6:c.1855A>G | ENSP00000311683.2:p.Thr619Ala | |
| ENST00000344408.9:c.2095A>G | ENSP00000342144.5:p.Thr699Ala | |
| ENST00000475313.5:c.1855A>G | ENSP00000431981.1:p.Thr619Ala | |
| ENST00000509670.1:c.*488A>G | ENSP00000423876.1:n.*488A>G | |
| NM_001166136.1:c.1855A>G | NP_001159608.1:p.Thr619Ala | |
| NM_147127.4:c.2095A>G | NP_667338.3:p.Thr699Ala | |
| XM_011513392.1:c.2104A>G | XP_011511694.1:p.Thr702Ala | |
| XM_011513393.1:c.2104A>G | XP_011511695.1:p.Thr702Ala | |
| XM_011513394.1:c.1864A>G | XP_011511696.1:p.Thr622Ala | |
| XM_017007736.1:c.1855A>G | XP_016863225.1:p.Thr619Ala | |
| XM_017007737.1:c.1855A>G | XP_016863226.1:p.Thr619Ala | |
| XM_017007738.1:c.2095A>G | XP_016863227.1:p.Thr699Ala | |
| XM_017007739.1:c.415A>G | XP_016863228.1:p.Thr139Ala | |
| XM_024453893.1:c.415A>G | XP_024309661.1:p.Thr139Ala | |
| XR_001741141.1:n.2160A>G | ||
| NM_147127.5:c.2095A>G MANE Select | NP_667338.3:p.Thr699Ala | |
| NM_001166136.2:c.1855A>G | NP_001159608.1:p.Thr619Ala |