Revel Score:
ENST00000258381 (MANE Select)
0.083
ENST00000358662
0.083
ENST00000392048
0.083
ENST00000258382
0.083
ENST00000540870
0.083
ENST00000338556
0.083
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001426 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.230185999A>C , CM000664.2:g.230185999A>C | GRCh38 |
| NC_000002.11:g.231050715A>C , CM000664.1:g.231050715A>C | GRCh37 |
| NC_000002.10:g.230758959A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462232.2:c.665T>G | ENSP00000513566.1:p.Leu222Trp | |
| ENST00000489597.2:c.1274T>G | ENSP00000513565.1:p.Leu425Trp | |
| ENST00000698099.1:c.1274T>G | ENSP00000513563.1:p.Leu425Trp | |
| ENST00000698100.1:c.1124T>G | ENSP00000513564.1:p.Leu375Trp | |
| ENST00000698102.1:n.1415T>G | ||
| ENST00000698103.1:c.1124T>G | ENSP00000513567.1:p.Leu375Trp | |
| ENST00000698104.1:n.1415T>G | ||
| ENST00000258381.11:c.1274T>G MANE Select | ENSP00000258381.6:p.Leu425Trp | |
| ENST00000258382.10:c.1274T>G | ENSP00000258382.5:p.Leu425Trp | |
| ENST00000358662.9:c.1274T>G | ENSP00000351488.4:p.Leu425Trp | |
| ENST00000540870.5:c.1292T>G | ENSP00000439558.1:p.Leu431Trp | |
| ENST00000258381.10:c.1274T>G | ENSP00000258381.6:p.Leu425Trp | |
| ENST00000258382.9:c.1274T>G | ENSP00000258382.5:p.Leu425Trp | |
| ENST00000358662.8:c.1274T>G | ENSP00000351488.4:p.Leu425Trp | |
| ENST00000392048.7:c.1268T>G | ENSP00000375902.3:p.Leu423Trp | |
| ENST00000540870.4:c.1292T>G | ENSP00000439558.1:p.Leu431Trp | |
| NM_001185015.1:c.1292T>G | NP_001171944.1:p.Leu431Trp | |
| XM_005246525.2:c.1292T>G | XP_005246582.1:p.Leu431Trp | |
| XM_006712487.2:c.1292T>G | XP_006712550.1:p.Leu431Trp | |
| XM_006712489.2:c.1292T>G | XP_006712552.1:p.Leu431Trp | |
| XM_011511088.1:c.1292T>G | XP_011509390.1:p.Leu431Trp | |
| XM_011511089.1:c.1274T>G | XP_011509391.1:p.Leu425Trp | |
| XM_011511090.1:c.1142T>G | XP_011509392.1:p.Leu381Trp | |
| XM_011511091.1:c.1292T>G | XP_011509393.1:p.Leu431Trp | |
| XM_011511092.1:c.665T>G | XP_011509394.1:p.Leu222Trp | |
| XM_005246525.4:c.1292T>G | XP_005246582.1:p.Leu431Trp | |
| XM_006712487.3:c.1292T>G | XP_006712550.1:p.Leu431Trp | |
| XM_006712489.4:c.1292T>G | XP_006712552.1:p.Leu431Trp | |
| XM_011511088.3:c.1292T>G | XP_011509390.1:p.Leu431Trp | |
| XM_011511089.3:c.1274T>G | XP_011509391.1:p.Leu425Trp | |
| XM_011511090.3:c.1142T>G | XP_011509392.1:p.Leu381Trp | |
| XM_011511091.3:c.1292T>G | XP_011509393.1:p.Leu431Trp | |
| XM_011511092.3:c.665T>G | XP_011509394.1:p.Leu222Trp | |
| XM_017003968.2:c.1292T>G | XP_016859457.1:p.Leu431Trp | |
| XM_017003969.1:c.1142T>G | XP_016859458.1:p.Leu381Trp | |
| XM_024452850.1:c.1142T>G | XP_024308618.1:p.Leu381Trp | |
| XM_024452851.1:c.1124T>G | XP_024308619.1:p.Leu375Trp | |
| NM_001185015.2:c.1292T>G | NP_001171944.1:p.Leu431Trp | |
| NM_004509.4:c.1274T>G | NP_004500.4:p.Leu425Trp | |
| NM_004510.4:c.1274T>G | NP_004501.4:p.Leu425Trp | |
| NM_080424.3:c.1274T>G | NP_536349.3:p.Leu425Trp | |
| NM_001378442.1:c.1292T>G | NP_001365371.1:p.Leu431Trp | |
| NM_001378443.1:c.1274T>G | NP_001365372.1:p.Leu425Trp | |
| NM_001378444.1:c.1292T>G | NP_001365373.1:p.Leu431Trp | |
| NM_001378445.1:c.1292T>G | NP_001365374.1:p.Leu431Trp | |
| NM_001378446.1:c.1292T>G | NP_001365375.1:p.Leu431Trp | |
| NM_001378447.1:c.1124T>G | NP_001365376.1:p.Leu375Trp | |
| NM_004509.5:c.1274T>G | NP_004500.4:p.Leu425Trp | |
| NM_080424.4:c.1274T>G MANE Select | NP_536349.3:p.Leu425Trp |