Revel Score:
ENST00000534884
0.429
ENST00000378682
0.429
ENST00000378684
0.429
ENST00000378723
0.429
ENST00000378677
0.429
ENST00000357033 (MANE Select)
0.429
ENST00000542849
0.429
ENST00000535280
0.429
ENST00000378707
0.429
ENST00000378702
0.429
ENST00000474231
0.429
ENST00000378705
0.429
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000567 (NFE)
Exomes Max Group AF
0.00000604 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31177932G>A , CM000685.2:g.31177932G>A | GRCh38 |
| NC_000023.10:g.31196049G>A , CM000685.1:g.31196049G>A | GRCh37 |
| NC_000023.9:g.31105970G>A | NCBI36 |
| NG_012232.1:g.2166678C>T , LRG_199:g.2166678C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.5069+737C>T | ENSP00000350765.3:n.5069+737C>T | |
| ENST00000680162.2:c.1019+737C>T | ENSP00000506634.2:n.1019+737C>T | |
| ENST00000680768.2:c.1019+737C>T | ENSP00000506359.2:n.1019+737C>T | |
| ENST00000681989.1:n.1060C>T | ||
| ENST00000682238.1:c.2843+737C>T | ENSP00000508124.1:n.2843+737C>T | |
| ENST00000682322.1:c.1019+737C>T | ENSP00000507690.1:n.1019+737C>T | |
| ENST00000682600.1:c.1019+737C>T | ENSP00000507640.1:n.1019+737C>T | |
| ENST00000682769.1:n.854+737C>T | ||
| ENST00000683509.1:n.1740+737C>T | ||
| ENST00000683675.1:n.1361C>T | ||
| ENST00000683709.1:n.1741+737C>T | ||
| ENST00000683957.1:n.3715+737C>T | ||
| ENST00000684072.1:n.491C>T | ||
| ENST00000684130.1:c.2843+737C>T | ENSP00000508037.1:n.2843+737C>T | |
| ENST00000343523.7:c.2117C>T | ENSP00000340057.4:p.Ala706Val | |
| ENST00000357033.9:c.10262C>T MANE Select | ENSP00000354923.3:p.Ala3421Val | |
| ENST00000619831.5:c.6230C>T | ENSP00000479270.2:p.Ala2077Val | |
| ENST00000620040.5:c.2843+737C>T | ENSP00000478150.2:n.2843+737C>T | |
| ENST00000679437.1:c.-77C>T | ENSP00000506629.1:n.-77C>T | |
| ENST00000679641.1:c.*225+737C>T | ENSP00000506135.1:n.*225+737C>T | |
| ENST00000679706.1:c.180+737C>T | ||
| ENST00000680162.1:c.935C>T | ENSP00000506634.1:p.Ala312Val | |
| ENST00000680355.1:c.1019+737C>T | ENSP00000506257.1:n.1019+737C>T | |
| ENST00000680557.1:c.603+26029C>T | ENSP00000505164.1:n.603+26029C>T | |
| ENST00000680768.1:c.962+737C>T | ENSP00000506359.1:n.962+737C>T | |
| ENST00000680961.1:c.*225+737C>T | ENSP00000506386.1:n.*225+737C>T | |
| ENST00000681026.1:c.-77C>T | ENSP00000506689.1:n.-77C>T | |
| ENST00000681153.1:c.1019+737C>T | ENSP00000505124.1:n.1019+737C>T | |
| ENST00000343523.6:c.2075C>T | ENSP00000340057.3:p.Ala692Val | |
| ENST00000357033.8:c.10262C>T | ENSP00000354923.3:p.Ala3421Val | |
| ENST00000358062.6:c.3311+737C>T | ENSP00000350765.2:n.3311+737C>T | |
| ENST00000359836.5:c.2843+737C>T | ENSP00000352894.1:n.2843+737C>T | |
| ENST00000361471.8:c.1019+737C>T | ENSP00000354464.4:n.1019+737C>T | |
| ENST00000378677.6:c.10250C>T | ENSP00000367948.2:p.Ala3417Val | |
| ENST00000378680.6:c.1019+737C>T | ENSP00000367951.2:n.1019+737C>T | |
| ENST00000378702.8:c.1058C>T | ENSP00000367974.4:p.Ala353Val | |
| ENST00000378705.3:c.632C>T | ENSP00000367977.3:p.Ala211Val | |
| ENST00000378707.7:c.2882C>T | ENSP00000367979.3:p.Ala961Val | |
| ENST00000378723.7:c.1058C>T | ENSP00000367997.3:p.Ala353Val | |
| ENST00000474231.5:c.2882C>T | ENSP00000417123.1:p.Ala961Val | |
| ENST00000541735.5:c.2843+737C>T | ENSP00000444119.1:n.2843+737C>T | |
| ENST00000619831.4:c.10247C>T | ENSP00000479270.1:p.Ala3416Val | |
| ENST00000620040.4:c.10259C>T | ENSP00000478150.1:p.Ala3420Val | |
| NM_000109.3:c.10238C>T | NP_000100.2:p.Ala3413Val | |
| NM_004006.2:c.10262C>T , LRG_199t1:c.10262C>T | NP_003997.1:p.Ala3421Val | |
| NM_004009.3:c.10250C>T | NP_004000.1:p.Ala3417Val | |
| NM_004010.3:c.9893C>T | NP_004001.1:p.Ala3298Val | |
| NM_004011.3:c.6239C>T | NP_004002.2:p.Ala2080Val | |
| NM_004012.3:c.6230C>T | NP_004003.1:p.Ala2077Val | |
| NM_004013.2:c.2882C>T | NP_004004.1:p.Ala961Val | |
| NM_004014.2:c.2075C>T | NP_004005.1:p.Ala692Val | |
| NM_004015.2:c.1058C>T | NP_004006.1:p.Ala353Val | |
| NM_004016.2:c.1058C>T | NP_004007.1:p.Ala353Val | |
| NM_004017.2:c.1019+737C>T | NP_004008.1:n.1019+737C>T | |
| NM_004018.2:c.1019+737C>T | NP_004009.1:n.1019+737C>T | |
| NM_004020.3:c.2843+737C>T | NP_004011.2:n.2843+737C>T | |
| NM_004021.2:c.2882C>T | NP_004012.1:p.Ala961Val | |
| NM_004022.2:c.2843+737C>T | NP_004013.1:n.2843+737C>T | |
| NM_004023.2:c.2843+737C>T | NP_004014.1:n.2843+737C>T | |
| XM_006724468.2:c.10262C>T | XP_006724531.1:p.Ala3421Val | |
| XM_006724469.2:c.10238C>T | XP_006724532.1:p.Ala3413Val | |
| XM_006724470.2:c.10223+737C>T | XP_006724533.1:n.10223+737C>T | |
| XM_006724471.2:c.10223+737C>T | XP_006724534.1:n.10223+737C>T | |
| XM_006724472.2:c.10133C>T | XP_006724535.1:p.Ala3378Val | |
| XM_006724473.2:c.10124C>T | XP_006724536.1:p.Ala3375Val | |
| XM_006724474.2:c.10223+737C>T | XP_006724537.1:n.10223+737C>T | |
| XM_006724475.2:c.10223+737C>T | XP_006724538.1:n.10223+737C>T | |
| XM_011545467.1:c.10139C>T | XP_011543769.1:p.Ala3380Val | |
| XM_006724469.3:c.10238C>T | XP_006724532.1:p.Ala3413Val | |
| XM_006724470.3:c.10223+737C>T | XP_006724533.1:n.10223+737C>T | |
| XM_006724474.3:c.10223+737C>T | XP_006724537.1:n.10223+737C>T | |
| XM_017029328.1:c.10223+737C>T | XP_016884817.1:n.10223+737C>T | |
| XM_017029331.1:c.4436C>T | XP_016884820.1:p.Ala1479Val | |
| NM_000109.4:c.10238C>T | NP_000100.3:p.Ala3413Val | |
| NM_004006.3:c.10262C>T MANE Select | NP_003997.2:p.Ala3421Val | |
| NM_004011.4:c.6239C>T | NP_004002.3:p.Ala2080Val | |
| NM_004012.4:c.6230C>T | NP_004003.2:p.Ala2077Val | |
| NM_004015.3:c.1058C>T | NP_004006.1:p.Ala353Val | |
| NM_004016.3:c.1058C>T | NP_004007.1:p.Ala353Val | |
| NM_004017.3:c.1019+737C>T | NP_004008.1:n.1019+737C>T | |
| NM_004018.3:c.1019+737C>T | NP_004009.1:n.1019+737C>T | |
| NM_004021.3:c.2882C>T | NP_004012.2:p.Ala961Val | |
| NM_004023.3:c.2843+737C>T | NP_004014.2:n.2843+737C>T | |
| NM_004013.3:c.2882C>T | NP_004004.2:p.Ala961Val | |
| NM_004014.3:c.2075C>T | NP_004005.2:p.Ala692Val | |
| NM_004020.4:c.2843+737C>T | NP_004011.3:n.2843+737C>T | |
| NM_004022.3:c.2843+737C>T | NP_004013.2:n.2843+737C>T |