Revel Score:
ENST00000283645
0.549
ENST00000453949
0.549
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23010005A>G , CM000677.2:g.23010005A>G | GRCh38 |
| NC_000015.9:g.22863063T>C , CM000677.1:g.22863063T>C | GRCh37 |
| NC_000015.8:g.20414504T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615383.5:c.2084T>C MANE Select | ENSP00000480316.1:p.Ile695Thr | |
| ENST00000614508.4:c.2084T>C | ENSP00000484566.1:p.Ile695Thr | |
| ENST00000615383.4:c.2084T>C | ENSP00000480316.1:p.Ile695Thr | |
| ENST00000615455.1:n.2266T>C | ||
| ENST00000620435.4:c.2084T>C | ENSP00000481853.1:p.Ile695Thr | |
| NM_001102610.1:c.2084T>C | NP_001096080.1:p.Ile695Thr | |
| NM_052903.4:c.2084T>C | NP_443135.3:p.Ile695Thr | |
| XM_005272540.2:c.2087T>C | XP_005272597.1:p.Ile696Thr | |
| XM_011543868.1:c.2087T>C | XP_011542170.1:p.Ile696Thr | |
| XM_011543869.1:c.2084T>C | XP_011542171.1:p.Ile695Thr | |
| XM_011543870.1:c.2087T>C | XP_011542172.1:p.Ile696Thr | |
| XM_011543871.1:c.1166T>C | XP_011542173.1:p.Ile389Thr | |
| XM_011543872.1:c.845T>C | XP_011542174.1:p.Ile282Thr | |
| NM_001354372.1:c.2087T>C | NP_001341301.1:p.Ile696Thr | |
| NM_001354373.1:c.2084T>C | NP_001341302.1:p.Ile695Thr | |
| NM_001354374.1:c.2042T>C | NP_001341303.1:p.Ile681Thr | |
| NM_001354375.1:c.2084T>C | NP_001341304.1:p.Ile695Thr | |
| NM_001354376.1:c.2084T>C | NP_001341305.1:p.Ile695Thr | |
| NM_001354377.1:c.2087T>C | NP_001341306.1:p.Ile696Thr | |
| NM_001354378.1:c.2087T>C | NP_001341307.1:p.Ile696Thr | |
| NM_052903.5:c.2084T>C | NP_443135.3:p.Ile695Thr | |
| NR_148875.1:n.2214T>C | ||
| XM_011543868.2:c.2087T>C | XP_011542170.1:p.Ile696Thr | |
| XM_011543870.2:c.2087T>C | XP_011542172.1:p.Ile696Thr | |
| XM_017021893.2:c.2087T>C | XP_016877382.1:p.Ile696Thr | |
| XM_017021894.1:c.1646T>C | XP_016877383.1:p.Ile549Thr | |
| XM_017021895.1:c.1643T>C | XP_016877384.1:p.Ile548Thr | |
| XM_017021896.1:c.1166T>C | XP_016877385.1:p.Ile389Thr | |
| XM_017021897.2:c.923T>C | XP_016877386.1:p.Ile308Thr | |
| XM_017021898.1:c.845T>C | XP_016877387.1:p.Ile282Thr | |
| XM_017021899.2:c.845T>C | XP_016877388.1:p.Ile282Thr | |
| XM_017021900.1:c.845T>C | XP_016877389.1:p.Ile282Thr | |
| XM_017021901.1:c.845T>C | XP_016877390.1:p.Ile282Thr | |
| NM_052903.6:c.2084T>C MANE Select | NP_443135.3:p.Ile695Thr | |
| NM_001354372.2:c.2087T>C | NP_001341301.1:p.Ile696Thr | |
| NM_001354373.2:c.2084T>C | NP_001341302.1:p.Ile695Thr | |
| NM_001354374.2:c.2042T>C | NP_001341303.1:p.Ile681Thr | |
| NM_001354375.2:c.2084T>C | NP_001341304.1:p.Ile695Thr | |
| NM_001354376.2:c.2084T>C | NP_001341305.1:p.Ile695Thr | |
| NR_148875.2:n.2110T>C | ||
| NM_001102610.2:c.2084T>C | NP_001096080.1:p.Ile695Thr | |
| NM_001354377.2:c.2087T>C | NP_001341306.1:p.Ile696Thr | |
| NM_001354378.2:c.2087T>C | NP_001341307.1:p.Ile696Thr |