ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005855 (EAS)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00006596 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.77402501C>T , CM000679.2:g.77402501C>T | GRCh38 |
| NC_000017.10:g.75398583C>T , CM000679.1:g.75398583C>T | GRCh37 |
| NC_000017.9:g.72910178C>T | NCBI36 |
| NG_011683.1:g.126092C>T | |
| NG_011683.2:g.126092C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329047.13:c.465C>T MANE Plus Clinical | ENSP00000329161.8:p.Pro155= | |
| ENST00000427177.6:c.519C>T MANE Select | ENSP00000391249.1:p.Pro173= | |
| ENST00000588690.6:c.27C>T | ENSP00000468668.1:p.Pro9= | |
| ENST00000590294.6:n.568C>T | ||
| ENST00000329047.12:c.465C>T | ENSP00000329161.8:p.Pro155= | |
| ENST00000423034.6:c.498C>T | ENSP00000405877.1:p.Pro166= | |
| ENST00000427177.5:c.519C>T | ENSP00000391249.1:p.Pro173= | |
| ENST00000427674.6:c.27C>T | ENSP00000403194.1:p.Pro9= | |
| ENST00000431235.6:c.27C>T | ENSP00000406987.2:p.Pro9= | |
| ENST00000449803.6:c.27C>T | ENSP00000400181.2:p.Pro9= | |
| ENST00000588575.1:c.195+6C>T | ENSP00000468090.1:n.195+6C>T | |
| ENST00000588690.5:c.27C>T | ENSP00000468668.1:p.Pro9= | |
| ENST00000590059.5:c.25-55C>T | ENSP00000466164.1:n.25-55C>T | |
| ENST00000590294.5:c.465C>T | ENSP00000465464.1:p.Pro155= | |
| ENST00000590595.1:c.201C>T | ENSP00000465026.1:p.Pro67= | |
| ENST00000590825.1:c.27C>T | ENSP00000468244.1:p.Pro9= | |
| ENST00000591198.5:c.462C>T | ENSP00000468406.1:p.Pro154= | |
| ENST00000592420.1:c.-55C>T | ENSP00000467051.1:n.-55C>T | |
| NM_001113491.1:c.519C>T | NP_001106963.1:p.Pro173= | |
| NM_001113492.1:c.27C>T | NP_001106964.1:p.Pro9= | |
| NM_001113493.1:c.498C>T | NP_001106965.1:p.Pro166= | |
| NM_001113494.1:c.27C>T | NP_001106966.1:p.Pro9= | |
| NM_001293695.1:c.462C>T | NP_001280624.1:p.Pro154= | |
| NM_006640.4:c.465C>T | NP_006631.2:p.Pro155= | |
| XM_006721643.2:c.27C>T | XP_006721706.1:p.Pro9= | |
| XM_011524204.1:c.612C>T | XP_011522506.1:p.Pro204= | |
| XM_011524205.1:c.609C>T | XP_011522507.1:p.Pro203= | |
| XM_011524206.1:c.474C>T | XP_011522508.1:p.Pro158= | |
| XM_011524207.1:c.27C>T | XP_011522509.1:p.Pro9= | |
| NM_001113491.2:c.519C>T MANE Select | NP_001106963.1:p.Pro173= | |
| NM_001113493.2:c.498C>T | NP_001106965.1:p.Pro166= | |
| NM_001293695.2:c.462C>T | NP_001280624.1:p.Pro154= | |
| NM_001113492.2:c.27C>T | NP_001106964.1:p.Pro9= | |
| NM_006640.5:c.465C>T MANE Plus Clinical | NP_006631.2:p.Pro155= |