COSMIC:
COSM3757557 (not active)
Revel Score:
ENST00000258436 (MANE Select)
0.209
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08391949 (NFE)
Genomes Max Group AF
0.08252611 (NFE)
Exomes Max Group AF
0.08390673 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102718982A>G , CM000664.2:g.102718982A>G | GRCh38 |
| NC_000002.11:g.103335441A>G , CM000664.1:g.103335441A>G | GRCh37 |
| NC_000002.10:g.102701873A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258436.10:c.863T>C MANE Select | ENSP00000258436.5:p.Ile288Thr | |
| ENST00000258436.9:c.863T>C | ENSP00000258436.5:p.Ile288Thr | |
| ENST00000411991.5:c.*668T>C | ENSP00000392605.1:n.*668T>C | |
| ENST00000437075.6:c.*664T>C | ENSP00000414870.2:n.*664T>C | |
| ENST00000438943.5:c.*699T>C | ENSP00000408630.1:n.*699T>C | |
| NM_032718.3:c.863T>C | NP_116107.3:p.Ile288Thr | |
| XM_005264032.1:c.680T>C | XP_005264089.1:p.Ile227Thr | |
| XM_011512004.1:c.680T>C | XP_011510306.1:p.Ile227Thr | |
| XM_011512005.1:c.680T>C | XP_011510307.1:p.Ile227Thr | |
| XM_011512006.1:c.488T>C | XP_011510308.1:p.Ile163Thr | |
| XM_011512007.1:c.440T>C | XP_011510309.1:p.Ile147Thr | |
| XR_923047.1:n.895T>C | ||
| NM_001322080.1:c.680T>C | NP_001309009.1:p.Ile227Thr | |
| NM_001322081.1:c.680T>C | NP_001309010.1:p.Ile227Thr | |
| NM_032718.4:c.863T>C | NP_116107.3:p.Ile288Thr | |
| NR_136173.1:n.1025T>C | ||
| NR_136174.1:n.910T>C | ||
| XM_011512005.2:c.680T>C | XP_011510307.1:p.Ile227Thr | |
| XM_011512006.2:c.488T>C | XP_011510308.1:p.Ile163Thr | |
| XM_011512007.2:c.440T>C | XP_011510309.1:p.Ile147Thr | |
| XR_923047.2:n.895T>C | ||
| NM_032718.5:c.863T>C MANE Select | NP_116107.3:p.Ile288Thr | |
| NR_136174.2:n.910T>C | ||
| NM_001322080.2:c.680T>C | NP_001309009.1:p.Ile227Thr | |
| NM_001322081.2:c.680T>C | NP_001309010.1:p.Ile227Thr | |
| NR_136173.2:n.1025T>C |