Revel Score:
ENST00000003084 (MANE Select)
0.400
ENST00000454343
0.400
ENST00000426809
0.400
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00078996 (EAS)
Genomes Max Group AF
0.00076739 (EAS)
Exomes Max Group AF
0.00071704 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117627712C>T , CM000669.2:g.117627712C>T | GRCh38 |
| NC_000007.13:g.117267766C>T , CM000669.1:g.117267766C>T | GRCh37 |
| NC_000007.12:g.117055002C>T | NCBI36 |
| NG_016465.4:g.166929C>T , LRG_663:g.166929C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3517+142C>T | ENSP00000497673.2:n.3517+142C>T | |
| ENST00000647978.2:c.*3373C>T | ENSP00000497658.1:n.*3373C>T | |
| ENST00000649781.2:c.3476C>T | ENSP00000497203.1:p.Thr1159Ile | |
| ENST00000685018.2:c.3659C>T | ENSP00000510194.2:p.Thr1220Ile | |
| ENST00000687278.2:c.*312C>T | ENSP00000509593.2:n.*312C>T | |
| ENST00000699585.1:c.3517+142C>T | ENSP00000514456.1:n.3517+142C>T | |
| ENST00000699598.1:c.3659C>T | ENSP00000514467.1:p.Thr1220Ile | |
| ENST00000699599.1:c.3659C>T | ENSP00000514468.1:p.Thr1220Ile | |
| ENST00000699600.1:c.*320C>T | ENSP00000514469.1:n.*320C>T | |
| ENST00000699601.1:c.*2034C>T | ENSP00000514470.1:n.*2034C>T | |
| ENST00000699602.1:c.3653C>T | ENSP00000514471.1:p.Thr1218Ile | |
| ENST00000699604.1:c.*3483C>T | ENSP00000514472.1:n.*3483C>T | |
| ENST00000699605.1:c.3233C>T | ENSP00000514473.1:p.Thr1078Ile | |
| ENST00000685018.1:c.407C>T | ENSP00000510194.1:p.Thr136Ile | |
| ENST00000687278.1:c.1446C>T | ENSP00000509593.1:n.1446C>T | |
| ENST00000689011.1:c.241C>T | ||
| ENST00000003084.11:c.3659C>T MANE Select | ENSP00000003084.6:p.Thr1220Ile | |
| ENST00000647720.1:c.1167+142C>T | ||
| ENST00000648260.1:c.2441C>T | ENSP00000497957.1:p.Thr814Ile | |
| ENST00000649406.1:c.3476C>T | ENSP00000497965.1:p.Thr1159Ile | |
| ENST00000649781.1:c.3476C>T | ENSP00000497203.1:p.Thr1159Ile | |
| ENST00000003084.10:c.3659C>T | ENSP00000003084.6:p.Thr1220Ile | |
| ENST00000426809.5:c.3569C>T | ENSP00000389119.1:p.Thr1190Ile | |
| ENST00000468795.1:c.484C>T | ||
| NM_000492.3:c.3659C>T , LRG_663t1:c.3659C>T | NP_000483.3:p.Thr1220Ile | |
| XM_011515751.1:c.3749C>T | XP_011514053.1:p.Thr1250Ile | |
| XM_011515752.1:c.3749C>T | XP_011514054.1:p.Thr1250Ile | |
| XM_011515753.1:c.3416C>T | XP_011514055.1:p.Thr1139Ile | |
| XM_011515754.1:c.3416C>T | XP_011514056.1:p.Thr1139Ile | |
| NM_000492.4:c.3659C>T MANE Select | NP_000483.3:p.Thr1220Ile |