Revel Score:
ENST00000417946
0.911
ENST00000518043
0.911
ENST00000523702
0.911
ENST00000430249
0.911
ENST00000539150
0.911
ENST00000233072 (MANE Select)
0.911
ENST00000536125
0.911
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00032328 (MID)
Genomes Max Group AF
0.00008888 (AMR)
Exomes Max Group AF
0.00034139 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210573338T>G , CM000664.2:g.210573338T>G | GRCh38 |
| NC_000002.11:g.211438062T>G , CM000664.1:g.211438062T>G | GRCh37 |
| NC_000002.10:g.211146307T>G | NCBI36 |
| NG_008285.1:g.100654T>G , LRG_336:g.100654T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233072.10:c.167T>G MANE Select | ENSP00000233072.5:p.Met56Arg | |
| ENST00000430249.7:c.185T>G | ENSP00000402608.2:p.Met62Arg | |
| ENST00000673510.1:c.167T>G | ENSP00000500537.1:p.Met56Arg | |
| ENST00000673630.1:c.167T>G | ENSP00000501073.1:p.Met56Arg | |
| ENST00000673711.1:c.167T>G | ENSP00000501022.1:p.Met56Arg | |
| ENST00000233072.9:c.167T>G | ENSP00000233072.5:p.Met56Arg | |
| ENST00000417946.5:c.167T>G | ENSP00000388496.1:p.Met56Arg | |
| ENST00000430249.6:c.185T>G | ENSP00000402608.2:p.Met62Arg | |
| ENST00000518043.5:c.167T>G | ENSP00000430697.1:p.Met56Arg | |
| ENST00000523702.5:c.185T>G | ENSP00000430644.1:p.Met62Arg | |
| ENST00000619804.1:c.167T>G | ENSP00000480517.1:p.Met56Arg | |
| NM_001122633.2:c.185T>G | NP_001116105.1:p.Met62Arg | |
| NM_001875.4:c.167T>G , LRG_336t1:c.167T>G | NP_001866.2:p.Met56Arg | |
| XM_011510640.1:c.200T>G | XP_011508942.1:p.Met67Arg | |
| XM_011510641.1:c.167T>G | XP_011508943.1:p.Met56Arg | |
| XM_011510642.1:c.167T>G | XP_011508944.1:p.Met56Arg | |
| XM_011510643.1:c.167T>G | XP_011508945.1:p.Met56Arg | |
| XM_011510644.1:c.167T>G | XP_011508946.1:p.Met56Arg | |
| NM_001122633.3:c.167T>G | NP_001116105.2:p.Met56Arg | |
| NM_001369256.1:c.200T>G | NP_001356185.1:p.Met67Arg | |
| NM_001369257.1:c.167T>G | NP_001356186.1:p.Met56Arg | |
| NM_001875.5:c.167T>G MANE Select | NP_001866.2:p.Met56Arg | |
| NR_161225.1:n.1079T>G |