Revel Score:
ENST00000370754
0.075
ENST00000370769
0.075
ENST00000446842
0.075
ENST00000312431
0.075
ENST00000361203
0.075
ENST00000439203
0.075
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.56605753T>C , CM000668.2:g.56605753T>C | GRCh38 |
| NC_000006.11:g.56470551T>C , CM000668.1:g.56470551T>C | GRCh37 |
| NC_000006.10:g.56578510T>C | NCBI36 |
| NG_029322.1:g.42144A>G | |
| NG_029322.2:g.353876A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421834.7:c.4650+4674A>G | ENSP00000400883.3:n.4650+4674A>G | |
| ENST00000449297.7:c.5184+4674A>G | ENSP00000393082.3:n.5184+4674A>G | |
| ENST00000520645.6:c.4770+4674A>G | ENSP00000431030.2:n.4770+4674A>G | |
| ENST00000652573.1:c.4998+4674A>G | ENSP00000498983.1:n.4998+4674A>G | |
| ENST00000680361.1:c.8875A>G MANE Select | ENSP00000505098.1:p.Thr2959Ala | |
| ENST00000244364.10:c.3672+4674A>G | ENSP00000244364.6:n.3672+4674A>G | |
| ENST00000312431.10:c.4770+4674A>G | ENSP00000307959.7:n.4770+4674A>G | |
| ENST00000361203.7:c.8242A>G | ENSP00000354508.3:p.Thr2748Ala | |
| ENST00000370754.9:c.5184+4674A>G | ENSP00000359790.6:n.5184+4674A>G | |
| ENST00000370788.6:c.4650+4674A>G | ENSP00000359824.2:n.4650+4674A>G | |
| ENST00000421834.6:c.4650+4674A>G | ENSP00000400883.3:n.4650+4674A>G | |
| ENST00000439203.5:c.7264A>G | ENSP00000404924.1:p.Thr2422Ala | |
| NM_001144769.2:c.5184+4674A>G | NP_001138241.1:n.5184+4674A>G | |
| NM_001144770.1:c.4770+4674A>G | NP_001138242.1:n.4770+4674A>G | |
| NM_015548.4:c.3672+4674A>G | NP_056363.2:n.3672+4674A>G | |
| NM_183380.3:c.4650+4674A>G | NP_899236.1:n.4650+4674A>G | |
| XM_005249310.2:c.8875A>G | XP_005249367.1:p.Thr2959Ala | |
| XM_005249315.2:c.8776A>G | XP_005249372.1:p.Thr2926Ala | |
| XM_005249316.1:c.8590A>G | XP_005249373.1:p.Thr2864Ala | |
| XM_005249318.1:c.8461A>G | XP_005249375.1:p.Thr2821Ala | |
| XM_005249319.1:c.8362A>G | XP_005249376.1:p.Thr2788Ala | |
| XM_005249320.3:c.8341A>G | XP_005249377.1:p.Thr2781Ala | |
| XM_005249322.3:c.8320A>G | XP_005249379.1:p.Thr2774Ala | |
| XM_005249323.2:c.8242A>G | XP_005249380.1:p.Thr2748Ala | |
| XM_005249324.1:c.7264A>G | XP_005249381.1:p.Thr2422Ala | |
| XM_011514824.1:c.8803A>G | XP_011513126.1:p.Thr2935Ala | |
| XM_011514825.1:c.5211+4674A>G | XP_011513127.1:n.5211+4674A>G | |
| XM_011514826.1:c.8242A>G | XP_011513128.1:p.Thr2748Ala | |
| XM_005249310.4:c.8875A>G | XP_005249367.1:p.Thr2959Ala | |
| XM_005249315.3:c.8776A>G | XP_005249372.1:p.Thr2926Ala | |
| XM_005249316.3:c.8590A>G | XP_005249373.1:p.Thr2864Ala | |
| XM_005249318.2:c.8461A>G | XP_005249375.1:p.Thr2821Ala | |
| XM_005249319.2:c.8362A>G | XP_005249376.1:p.Thr2788Ala | |
| XM_005249320.4:c.8341A>G | XP_005249377.1:p.Thr2781Ala | |
| XM_005249322.5:c.8320A>G | XP_005249379.1:p.Thr2774Ala | |
| XM_005249323.4:c.8242A>G | XP_005249380.1:p.Thr2748Ala | |
| XM_005249324.3:c.7264A>G | XP_005249381.1:p.Thr2422Ala | |
| XM_011514824.2:c.8803A>G | XP_011513126.1:p.Thr2935Ala | |
| XM_011514825.3:c.5211+4674A>G | XP_011513127.1:n.5211+4674A>G | |
| XM_011514826.3:c.8242A>G | XP_011513128.1:p.Thr2748Ala | |
| XM_017011205.1:c.8902A>G | XP_016866694.1:p.Thr2968Ala | |
| XM_017011206.1:c.8902A>G | XP_016866695.1:p.Thr2968Ala | |
| XM_017011207.1:c.8839A>G | XP_016866696.1:p.Thr2947Ala | |
| XM_017011208.1:c.8902A>G | XP_016866697.1:p.Thr2968Ala | |
| XM_017011209.1:c.8902A>G | XP_016866698.1:p.Thr2968Ala | |
| XM_017011210.1:c.8902A>G | XP_016866699.1:p.Thr2968Ala | |
| XM_017011211.2:c.8902A>G | XP_016866700.1:p.Thr2968Ala | |
| XM_017011212.1:c.8902A>G | XP_016866701.1:p.Thr2968Ala | |
| XM_017011213.1:c.8902A>G | XP_016866702.1:p.Thr2968Ala | |
| XM_017011214.2:c.8902A>G | XP_016866703.1:p.Thr2968Ala | |
| XM_017011215.2:c.8902A>G | XP_016866704.1:p.Thr2968Ala | |
| XM_017011216.2:c.8902A>G | XP_016866705.1:p.Thr2968Ala | |
| XM_017011217.1:c.8278A>G | XP_016866706.1:p.Thr2760Ala | |
| XM_017011218.1:c.3469A>G | XP_016866707.1:p.Thr1157Ala | |
| XM_017011219.1:c.5310+4674A>G | XP_016866708.1:n.5310+4674A>G | |
| XM_017011220.1:c.5184+4674A>G | XP_016866709.1:n.5184+4674A>G | |
| XM_017011221.1:c.5310+4674A>G | XP_016866710.1:n.5310+4674A>G | |
| XM_017011222.2:c.4998+4674A>G | XP_016866711.1:n.4998+4674A>G | |
| XM_017011223.1:c.5310+4674A>G | XP_016866712.1:n.5310+4674A>G | |
| XM_017011224.2:c.4650+4674A>G | XP_016866713.1:n.4650+4674A>G | |
| XM_024446530.1:c.8221A>G | XP_024302298.1:p.Thr2741Ala | |
| NM_001144769.5:c.5184+4674A>G | NP_001138241.1:n.5184+4674A>G | |
| NM_001144770.2:c.4770+4674A>G | NP_001138242.1:n.4770+4674A>G | |
| NM_001374722.1:c.8875A>G | NP_001361651.1:p.Thr2959Ala | |
| NM_001374729.1:c.8242A>G | NP_001361658.1:p.Thr2748Ala | |
| NM_001374730.1:c.4650+4674A>G | NP_001361659.1:n.4650+4674A>G | |
| NM_001374734.1:c.8902A>G | NP_001361663.1:p.Thr2968Ala | |
| NM_001374736.1:c.8875A>G MANE Select | NP_001361665.1:p.Thr2959Ala | |
| NM_015548.5:c.3672+4674A>G | NP_056363.2:n.3672+4674A>G | |
| NM_183380.4:c.4650+4674A>G | NP_899236.1:n.4650+4674A>G | |
| NM_001386100.1:c.4650+4674A>G | NP_001373029.1:n.4650+4674A>G |