Revel Score:
ENST00000379987 (MANE Select)
0.367
ENST00000453617
0.367
ENST00000427316
0.367
ENST00000514622
0.367
ENST00000305572
0.367
ENST00000506666
0.367
ENST00000503451
0.367
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013501 (MID)
Exomes Max Group AF
0.00014339 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105967389G>T , CM000666.2:g.105967389G>T | GRCh38 |
| NC_000004.11:g.106888546G>T , CM000666.1:g.106888546G>T | GRCh37 |
| NC_000004.10:g.107107995G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379987.7:c.1547G>T MANE Select | ENSP00000369323.2:p.Gly516Val | |
| ENST00000305572.12:c.1460G>T | ENSP00000302557.8:p.Gly487Val | |
| ENST00000379987.6:c.1547G>T | ENSP00000369323.2:p.Gly516Val | |
| ENST00000427316.6:c.1637G>T | ENSP00000389252.2:p.Gly546Val | |
| ENST00000453617.6:c.1598G>T | ENSP00000402884.2:p.Gly533Val | |
| ENST00000503451.5:c.1688G>T | ENSP00000426146.1:p.Gly563Val | |
| ENST00000504787.1:c.69-2996G>T | ||
| ENST00000505917.1:c.39+8263G>T | ||
| ENST00000506666.5:c.1550G>T | ENSP00000422474.1:p.Gly517Val | |
| ENST00000514622.5:c.1460G>T | ENSP00000422044.1:p.Gly487Val | |
| ENST00000514632.1:n.430G>T | ||
| ENST00000514837.1:c.1275-3725G>T | ||
| NM_001033047.2:c.1547G>T | NP_001028219.1:p.Gly516Val | |
| NM_001184690.1:c.1598G>T | NP_001171619.1:p.Gly533Val | |
| NM_001184691.1:c.1637G>T | NP_001171620.1:p.Gly546Val | |
| NM_001184692.1:c.1460G>T | NP_001171621.1:p.Gly487Val | |
| NM_001184693.1:c.1550G>T | NP_001171622.1:p.Gly517Val | |
| XM_005262888.3:c.1688G>T | XP_005262945.1:p.Gly563Val | |
| XM_005262890.1:c.1235G>T | XP_005262947.1:p.Gly412Val | |
| XM_011531820.1:c.1691G>T | XP_011530122.1:p.Gly564Val | |
| XM_011531821.1:c.1646G>T | XP_011530123.1:p.Gly549Val | |
| XM_011531822.1:c.1640G>T | XP_011530124.1:p.Gly547Val | |
| XM_011531823.1:c.1604G>T | XP_011530125.1:p.Gly535Val | |
| XM_011531824.1:c.1601G>T | XP_011530126.1:p.Gly534Val | |
| XM_011531825.1:c.1550G>T | XP_011530127.1:p.Gly517Val | |
| XM_011531826.1:c.1520G>T | XP_011530128.1:p.Gly507Val | |
| XM_005262888.4:c.1688G>T | XP_005262945.1:p.Gly563Val | |
| XM_011531820.2:c.1691G>T | XP_011530122.1:p.Gly564Val | |
| XM_011531822.2:c.1640G>T | XP_011530124.1:p.Gly547Val | |
| XM_011531823.2:c.1604G>T | XP_011530125.1:p.Gly535Val | |
| XM_011531824.2:c.1601G>T | XP_011530126.1:p.Gly534Val | |
| XM_011531825.2:c.1550G>T | XP_011530127.1:p.Gly517Val | |
| XM_017007984.1:c.1490-1506G>T | XP_016863473.1:n.1490-1506G>T | |
| NM_001033047.3:c.1547G>T MANE Select | NP_001028219.1:p.Gly516Val | |
| NM_001184690.2:c.1598G>T | NP_001171619.1:p.Gly533Val | |
| NM_001184691.2:c.1637G>T | NP_001171620.1:p.Gly546Val | |
| NM_001184692.2:c.1460G>T | NP_001171621.1:p.Gly487Val | |
| NM_001184693.2:c.1550G>T | NP_001171622.1:p.Gly517Val |