COSMIC:
COSM3751884 (not active)
COSM3751885 (not active)
Revel Score:
ENST00000532039
0.005
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29551889 (EAS)
Genomes Max Group AF
0.29072337 (EAS)
Exomes Max Group AF
0.29480682 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.5966209C>T , CM000672.2:g.5966209C>T | GRCh38 |
| NC_000010.10:g.6008172C>T , CM000672.1:g.6008172C>T | GRCh37 |
| NC_000010.9:g.6048178C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379977.8:c.219G>A MANE Select | ENSP00000369312.3:p.Thr73= | |
| ENST00000379971.5:c.89-5642G>A | ENSP00000369306.1:n.89-5642G>A | |
| ENST00000379972.6:n.542G>A | ||
| ENST00000379974.1:n.404-5642G>A | ||
| ENST00000379977.7:c.219G>A | ENSP00000369312.3:p.Thr73= | |
| ENST00000397246.7:c.111G>A | ENSP00000380420.4:p.Thr37= | |
| ENST00000397248.6:c.477G>A | ENSP00000380421.3:p.Thr159= | |
| ENST00000397250.6:c.89-5642G>A | ENSP00000380422.2:n.89-5642G>A | |
| ENST00000397251.7:c.372G>A | ENSP00000380423.3:p.Thr124= | |
| ENST00000397255.7:c.219G>A | ENSP00000380426.3:p.Thr73= | |
| ENST00000429135.2:c.219G>A | ENSP00000395113.2:p.Thr73= | |
| ENST00000453922.1:c.111G>A | ENSP00000405107.1:p.Thr37= | |
| ENST00000525219.6:c.111G>A | ENSP00000431529.2:p.Thr37= | |
| ENST00000528354.5:c.219G>A | ENSP00000435454.1:p.Thr73= | |
| ENST00000530685.5:c.219G>A | ENSP00000435995.1:p.Thr73= | |
| ENST00000532039.5:c.131G>A | ||
| ENST00000532948.5:n.393G>A | ||
| ENST00000534292.5:n.400G>A | ||
| ENST00000618528.4:c.372G>A | ENSP00000479938.1:p.Thr124= | |
| ENST00000620345.4:c.372G>A | ENSP00000479839.1:p.Thr124= | |
| ENST00000620865.4:c.372G>A | ENSP00000478525.1:p.Thr124= | |
| ENST00000622442.4:c.372G>A | ENSP00000480949.1:p.Thr124= | |
| NM_001243539.1:c.111G>A | NP_001230468.1:p.Thr37= | |
| NM_001256765.1:c.477G>A | NP_001243694.1:p.Thr159= | |
| NM_002189.3:c.219G>A | NP_002180.1:p.Thr73= | |
| NM_172200.2:c.219G>A | NP_751950.2:p.Thr73= | |
| NR_046362.1:n.412-5642G>A | ||
| XM_011519461.1:c.546G>A | XP_011517763.1:p.Thr182= | |
| XM_011519462.1:c.477G>A | XP_011517764.1:p.Thr159= | |
| XM_011519463.1:c.546G>A | XP_011517765.1:p.Thr182= | |
| XM_011519464.1:c.393G>A | XP_011517766.1:p.Thr131= | |
| XM_011519465.1:c.546G>A | XP_011517767.1:p.Thr182= | |
| XM_011519466.1:c.546G>A | XP_011517768.1:p.Thr182= | |
| XM_011519467.1:c.324G>A | XP_011517769.1:p.Thr108= | |
| XM_011519468.1:c.546G>A | XP_011517770.1:p.Thr182= | |
| XM_011519469.1:c.546G>A | XP_011517771.1:p.Thr182= | |
| XM_011519470.1:c.324G>A | XP_011517772.1:p.Thr108= | |
| XM_011519471.1:c.263-2368G>A | XP_011517773.1:n.263-2368G>A | |
| XM_011519472.1:c.194-2368G>A | XP_011517774.1:n.194-2368G>A | |
| XM_011519473.1:c.111G>A | XP_011517775.1:p.Thr37= | |
| XM_011519474.1:c.263-5642G>A | XP_011517776.1:n.263-5642G>A | |
| XM_011519475.1:c.194-5642G>A | XP_011517777.1:n.194-5642G>A | |
| XM_011519476.1:c.194-5642G>A | XP_011517778.1:n.194-5642G>A | |
| XM_011519477.1:c.194-5642G>A | XP_011517779.1:n.194-5642G>A | |
| NM_001351095.1:c.393G>A | NP_001338024.1:p.Thr131= | |
| NM_001351096.1:c.111G>A | NP_001338025.1:p.Thr37= | |
| NM_001351097.1:c.111G>A | NP_001338026.1:p.Thr37= | |
| XM_011519461.2:c.546G>A | XP_011517763.1:p.Thr182= | |
| XM_011519462.2:c.477G>A | XP_011517764.1:p.Thr159= | |
| XM_011519463.2:c.546G>A | XP_011517765.1:p.Thr182= | |
| XM_011519464.2:c.393G>A | XP_011517766.1:p.Thr131= | |
| XM_011519466.2:c.546G>A | XP_011517768.1:p.Thr182= | |
| XM_011519467.2:c.324G>A | XP_011517769.1:p.Thr108= | |
| XM_011519470.2:c.324G>A | XP_011517772.1:p.Thr108= | |
| XM_011519471.2:c.263-2368G>A | XP_011517773.1:n.263-2368G>A | |
| XM_011519472.2:c.194-2368G>A | XP_011517774.1:n.194-2368G>A | |
| XM_011519474.2:c.263-5642G>A | XP_011517776.1:n.263-5642G>A | |
| XM_011519475.2:c.194-5642G>A | XP_011517777.1:n.194-5642G>A | |
| XM_011519476.2:c.194-5642G>A | XP_011517778.1:n.194-5642G>A | |
| XM_011519477.2:c.194-5642G>A | XP_011517779.1:n.194-5642G>A | |
| XM_017016195.1:c.393G>A | XP_016871684.1:p.Thr131= | |
| XM_017016196.1:c.111G>A | XP_016871685.1:p.Thr37= | |
| XM_017016197.2:c.111G>A | XP_016871686.1:p.Thr37= | |
| XM_017016198.1:c.263-2368G>A | XP_016871687.1:n.263-2368G>A | |
| XM_017016199.1:c.546G>A | XP_016871688.1:p.Thr182= | |
| XM_017016200.2:c.111G>A | XP_016871689.1:p.Thr37= | |
| XM_024447981.1:c.546G>A | XP_024303749.1:p.Thr182= | |
| XM_024447982.1:c.546G>A | XP_024303750.1:p.Thr182= | |
| XM_024447983.1:c.111G>A | XP_024303751.1:p.Thr37= | |
| XR_001747348.1:n.2420+1888C>T | ||
| NM_002189.4:c.219G>A MANE Select | NP_002180.1:p.Thr73= | |
| NM_001351097.2:c.111G>A | NP_001338026.1:p.Thr37= | |
| NM_172200.3:c.219G>A | NP_751950.2:p.Thr73= | |
| NR_046362.2:n.271-5642G>A | ||
| NM_001243539.2:c.111G>A | NP_001230468.1:p.Thr37= | |
| NM_001351095.2:c.393G>A | NP_001338024.1:p.Thr131= |