Revel Score:
ENST00000504568
0.281
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1001475C>T , CM000666.2:g.1001475C>T | GRCh38 |
| NC_000004.11:g.995263C>T , CM000666.1:g.995263C>T | GRCh37 |
| NC_000004.10:g.985263C>T | NCBI36 |
| NG_008103.1:g.19479C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.501C>T | ENSP00000247933.4:p.Tyr167= | |
| ENST00000514224.2:c.501C>T MANE Select | ENSP00000425081.2:p.Tyr167= | |
| ENST00000652070.1:n.557C>T | ||
| ENST00000247933.8:c.501C>T | ENSP00000247933.4:p.Tyr167= | |
| ENST00000502910.5:c.360C>T | ENSP00000422952.1:p.Tyr120= | |
| ENST00000504568.5:c.461C>T | ||
| ENST00000509948.5:c.294C>T | ENSP00000424227.1:p.Tyr98= | |
| ENST00000514192.5:c.318C>T | ENSP00000423685.1:p.Tyr106= | |
| ENST00000514224.1:c.105C>T | ENSP00000425081.1:p.Tyr35= | |
| ENST00000514698.5:n.401C>T | ||
| NM_000203.4:c.501C>T | NP_000194.2:p.Tyr167= | |
| NR_110313.1:n.589C>T | ||
| XM_006713882.2:c.105C>T | XP_006713945.1:p.Tyr35= | |
| XM_011513459.1:c.360C>T | XP_011511761.1:p.Tyr120= | |
| XM_011513460.1:c.360C>T | XP_011511762.1:p.Tyr120= | |
| XM_011513461.1:c.294C>T | XP_011511763.1:p.Tyr98= | |
| XM_011513462.1:c.213C>T | XP_011511764.1:p.Tyr71= | |
| XM_011513463.1:c.213C>T | XP_011511765.1:p.Tyr71= | |
| XR_924947.1:n.570C>T | ||
| NM_000203.5:c.501C>T MANE Select | NP_000194.2:p.Tyr167= | |
| NM_001363576.1:c.105C>T | NP_001350505.1:p.Tyr35= | |
| XM_011513461.2:c.294C>T | XP_011511763.1:p.Tyr98= | |
| XM_017008163.1:c.-488C>T | XP_016863652.1:n.-488C>T |