ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004284 (AMR)
Exomes Max Group AF
0.00005806 (AMR)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204944335C>T , CM000663.2:g.204944335C>T | GRCh38 |
| NC_000001.10:g.204913463C>T , CM000663.1:g.204913463C>T | GRCh37 |
| NC_000001.9:g.203180086C>T | NCBI36 |
| NG_029938.1:g.120682C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430393.7:c.20C>T | ENSP00000415031.3:p.Pro7Leu | |
| ENST00000513543.6:c.20C>T | ENSP00000425908.1:p.Pro7Leu | |
| ENST00000539706.6:c.20C>T MANE Plus Clinical | ENSP00000438614.2:p.Pro7Leu | |
| ENST00000339876.11:c.20C>T MANE Select | ENSP00000344786.6:p.Pro7Leu | |
| ENST00000430393.6:c.20C>T | ENSP00000415031.2:p.Pro7Leu | |
| ENST00000680427.1:c.20C>T | ENSP00000506661.1:p.Pro7Leu | |
| ENST00000339876.10:c.20C>T | ENSP00000344786.6:p.Pro7Leu | |
| ENST00000360049.8:c.20C>T | ENSP00000353154.4:p.Pro7Leu | |
| ENST00000401399.5:c.20C>T | ENSP00000385637.1:p.Pro7Leu | |
| ENST00000403080.5:c.20C>T | ENSP00000384875.1:p.Pro7Leu | |
| ENST00000404076.5:c.20C>T | ENSP00000385676.1:p.Pro7Leu | |
| ENST00000404907.5:c.20C>T | ENSP00000384061.1:p.Pro7Leu | |
| ENST00000404977.6:n.351C>T | ||
| ENST00000493914.5:n.316C>T | ||
| ENST00000504476.5:c.20C>T | ENSP00000422524.1:p.Pro7Leu | |
| ENST00000505079.5:c.20C>T | ENSP00000427586.1:p.Pro7Leu | |
| ENST00000513543.5:c.20C>T | ENSP00000425908.1:p.Pro7Leu | |
| ENST00000514644.5:n.428C>T | ||
| ENST00000539706.5:c.20C>T | ENSP00000438614.1:p.Pro7Leu | |
| NM_001005388.2:c.20C>T | NP_001005388.2:p.Pro7Leu | |
| NM_001005389.1:c.20C>T | NP_001005389.2:p.Pro7Leu | |
| NM_001160331.1:c.20C>T | NP_001153803.1:p.Pro7Leu | |
| NM_001160332.1:c.20C>T | NP_001153804.1:p.Pro7Leu | |
| NM_001160333.1:c.20C>T | NP_001153805.1:p.Pro7Leu | |
| NM_015090.3:c.20C>T | NP_055905.2:p.Pro7Leu | |
| XM_005244989.3:c.251C>T | XP_005245046.2:p.Pro84Leu | |
| XM_005244991.3:c.251C>T | XP_005245048.2:p.Pro84Leu | |
| XM_005244992.3:c.251C>T | XP_005245049.2:p.Pro84Leu | |
| XM_005244993.3:c.251C>T | XP_005245050.2:p.Pro84Leu | |
| XM_005244997.3:c.251C>T | XP_005245054.2:p.Pro84Leu | |
| XM_011509311.1:c.20C>T | XP_011507613.1:p.Pro7Leu | |
| XM_011509312.1:c.251C>T | XP_011507614.1:p.Pro84Leu | |
| XM_011509313.1:c.20C>T | XP_011507615.1:p.Pro7Leu | |
| XM_011509314.1:c.251C>T | XP_011507616.1:p.Pro84Leu | |
| XM_011509315.1:c.20C>T | XP_011507617.1:p.Pro7Leu | |
| XM_011509316.1:c.20C>T | XP_011507618.1:p.Pro7Leu | |
| XM_011509317.1:c.20C>T | XP_011507619.1:p.Pro7Leu | |
| XM_011509318.1:c.326C>T | XP_011507620.1:p.Pro109Leu | |
| XM_011509319.1:c.20C>T | XP_011507621.1:p.Pro7Leu | |
| XM_011509320.1:c.326C>T | XP_011507622.1:p.Pro109Leu | |
| XM_011509321.1:c.20C>T | XP_011507623.1:p.Pro7Leu | |
| XM_011509322.1:c.20C>T | XP_011507624.1:p.Pro7Leu | |
| XM_011509323.1:c.20C>T | XP_011507625.1:p.Pro7Leu | |
| XM_011509324.1:c.20C>T | XP_011507626.1:p.Pro7Leu | |
| XM_011509325.1:c.20C>T | XP_011507627.1:p.Pro7Leu | |
| XM_011509326.1:c.20C>T | XP_011507628.1:p.Pro7Leu | |
| XM_011509327.1:c.20C>T | XP_011507629.1:p.Pro7Leu | |
| XM_011509328.1:c.20C>T | XP_011507630.1:p.Pro7Leu | |
| XR_921759.1:n.110C>T | ||
| NM_001365986.1:c.20C>T | NP_001352915.1:p.Pro7Leu | |
| XM_005244992.4:c.251C>T | XP_005245049.2:p.Pro84Leu | |
| XM_011509311.2:c.467C>T | XP_011507613.2:p.Pro156Leu | |
| XM_011509318.2:c.326C>T | XP_011507620.1:p.Pro109Leu | |
| XM_011509320.2:c.326C>T | XP_011507622.1:p.Pro109Leu | |
| XM_011509321.2:c.467C>T | XP_011507623.2:p.Pro156Leu | |
| XM_011509322.2:c.467C>T | XP_011507624.2:p.Pro156Leu | |
| XM_011509323.2:c.467C>T | XP_011507625.2:p.Pro156Leu | |
| XM_011509325.2:c.467C>T | XP_011507627.2:p.Pro156Leu | |
| XM_011509326.2:c.467C>T | XP_011507628.2:p.Pro156Leu | |
| XM_011509327.2:c.467C>T | XP_011507629.2:p.Pro156Leu | |
| XM_011509328.2:c.467C>T | XP_011507630.2:p.Pro156Leu | |
| XM_017000733.1:c.251C>T | XP_016856222.1:p.Pro84Leu | |
| XM_017000734.1:c.251C>T | XP_016856223.1:p.Pro84Leu | |
| XM_017000738.1:c.326C>T | XP_016856227.1:p.Pro109Leu | |
| XM_017000739.1:c.326C>T | XP_016856228.1:p.Pro109Leu | |
| XM_017000740.1:c.326C>T | XP_016856229.1:p.Pro109Leu | |
| XM_017000742.2:c.-1078C>T | XP_016856231.1:n.-1078C>T | |
| XM_017000743.1:c.326C>T | XP_016856232.1:p.Pro109Leu | |
| XM_024454283.1:c.467C>T | XP_024310051.1:p.Pro156Leu | |
| XM_024454285.1:c.467C>T | XP_024310053.1:p.Pro156Leu | |
| XM_024454288.1:c.467C>T | XP_024310056.1:p.Pro156Leu | |
| XM_024454292.1:c.467C>T | XP_024310060.1:p.Pro156Leu | |
| XM_024454296.1:c.467C>T | XP_024310064.1:p.Pro156Leu | |
| XM_024454297.1:c.467C>T | XP_024310065.1:p.Pro156Leu | |
| XM_024454299.1:c.467C>T | XP_024310067.1:p.Pro156Leu | |
| XM_024454300.1:c.20C>T | XP_024310068.1:p.Pro7Leu | |
| XM_024454301.1:c.20C>T | XP_024310069.1:p.Pro7Leu | |
| XM_024454302.1:c.20C>T | XP_024310070.1:p.Pro7Leu | |
| NM_001005389.2:c.20C>T | NP_001005389.2:p.Pro7Leu | |
| NM_001160333.2:c.20C>T | NP_001153805.1:p.Pro7Leu | |
| NM_001005388.3:c.20C>T MANE Select | NP_001005388.2:p.Pro7Leu | |
| NM_001160331.2:c.20C>T MANE Plus Clinical | NP_001153803.1:p.Pro7Leu | |
| NM_001160332.2:c.20C>T | NP_001153804.1:p.Pro7Leu | |
| NM_001378329.1:c.20C>T | NP_001365258.1:p.Pro7Leu | |
| NM_001378330.1:c.20C>T | NP_001365259.1:p.Pro7Leu | |
| NM_001378331.1:c.20C>T | NP_001365260.1:p.Pro7Leu | |
| NM_015090.4:c.20C>T | NP_055905.2:p.Pro7Leu | |
| NR_165492.1:n.350C>T |