Revel Score:
ENST00000394936 (MANE Select)
0.132
ENST00000373120
0.132
ENST00000357471
0.132
ENST00000394934
0.132
ENST00000394929
0.132
ENST00000404083
0.132
ENST00000394940
0.132
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00065635 (MID)
Genomes Max Group AF
0.00006805 (NFE)
Exomes Max Group AF
0.00056862 (MID)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71819734G>A , CM000672.2:g.71819734G>A | GRCh38 |
| NC_000010.10:g.73579491G>A , CM000672.1:g.73579491G>A | GRCh37 |
| NC_000010.9:g.73249497G>A | NCBI36 |
| NG_009301.1:g.36592C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.1172C>T MANE Select | ENSP00000378394.3:p.Thr391Met | |
| ENST00000394934.4:c.1181C>T | ENSP00000378392.2:p.Thr394Met | |
| ENST00000394936.7:c.1172C>T | ENSP00000378394.3:p.Thr391Met | |
| ENST00000610929.3:c.320C>T | ENSP00000480857.1:p.Thr107Met | |
| NM_001042465.1:c.1181C>T | NP_001035930.1:p.Thr394Met | |
| NM_001042466.1:c.1178C>T | NP_001035931.1:p.Thr393Met | |
| NM_002778.2:c.1172C>T | NP_002769.1:p.Thr391Met | |
| NM_001042465.2:c.1181C>T | NP_001035930.1:p.Thr394Met | |
| NM_001042466.2:c.1178C>T | NP_001035931.1:p.Thr393Met | |
| NM_002778.3:c.1172C>T | NP_002769.1:p.Thr391Met | |
| NM_002778.4:c.1172C>T MANE Select | NP_002769.1:p.Thr391Met | |
| NM_001042465.3:c.1181C>T | NP_001035930.1:p.Thr394Met | |
| NM_001042466.3:c.1178C>T | NP_001035931.1:p.Thr393Met |