Revel Score:
ENST00000261304 (MANE Select)
0.880
ENST00000544807
0.880
ENST00000393569
0.880
ENST00000539620
0.880
ENST00000393568
0.880
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007369 (NFE)
Genomes Max Group AF
0.00001974 (NFE)
Exomes Max Group AF
0.00007536 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87941529T>G , CM000676.2:g.87941529T>G | GRCh38 |
| NC_000014.8:g.88407873T>G , CM000676.1:g.88407873T>G | GRCh37 |
| NC_000014.7:g.87477626T>G | NCBI36 |
| NG_011853.2:g.57035A>C | |
| NG_011853.3:g.57035A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.1700A>C MANE Select | ENSP00000261304.2:p.Tyr567Ser | |
| ENST00000261304.6:c.1700A>C | ENSP00000261304.2:p.Tyr567Ser | |
| ENST00000393568.8:c.1631A>C | ENSP00000377198.4:p.Tyr544Ser | |
| ENST00000393569.6:c.1622A>C | ENSP00000377199.2:p.Tyr541Ser | |
| ENST00000544807.6:c.1532A>C | ENSP00000437513.2:p.Tyr511Ser | |
| ENST00000555000.5:c.1067A>C | ENSP00000450472.1:p.Tyr356Ser | |
| ENST00000555179.1:c.236A>C | ||
| ENST00000557316.5:c.*1098A>C | ENSP00000452314.1:n.*1098A>C | |
| NM_000153.3:c.1700A>C | NP_000144.2:p.Tyr567Ser | |
| NM_001201401.1:c.1631A>C | NP_001188330.1:p.Tyr544Ser | |
| NM_001201402.1:c.1622A>C | NP_001188331.1:p.Tyr541Ser | |
| XM_011536618.1:c.1532A>C | XP_011534920.1:p.Tyr511Ser | |
| XM_011536618.2:c.1532A>C | XP_011534920.1:p.Tyr511Ser | |
| NM_000153.4:c.1700A>C MANE Select | NP_000144.2:p.Tyr567Ser | |
| NM_001201401.2:c.1631A>C | NP_001188330.1:p.Tyr544Ser | |
| NM_001201402.2:c.1622A>C | NP_001188331.1:p.Tyr541Ser |