COSMIC:
COSM3753090 (not active)
COSM3753091 (not active)
Revel Score:
ENST00000545604
0.034
ENST00000540354
0.034
ENST00000266509 (MANE Select)
0.034
ENST00000381552
0.034
ENST00000545102
0.034
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0517578 (NFE)
Genomes Max Group AF
0.05124604 (NFE)
Exomes Max Group AF
0.05171167 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20711408C>A , CM000674.2:g.20711408C>A | GRCh38 |
| NC_000012.11:g.20864342C>A , CM000674.1:g.20864342C>A | GRCh37 |
| NC_000012.10:g.20755609C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266509.7:c.427C>A MANE Select | ENSP00000266509.2:p.Pro143Thr | |
| ENST00000266509.6:c.427C>A | ENSP00000266509.2:p.Pro143Thr | |
| ENST00000539415.5:c.*11C>A | ENSP00000437399.1:n.*11C>A | |
| ENST00000540354.5:c.427C>A | ENSP00000438665.1:p.Pro143Thr | |
| ENST00000545102.1:c.73C>A | ENSP00000444527.1:p.Pro25Thr | |
| ENST00000545604.5:c.427C>A | ENSP00000444149.1:p.Pro143Thr | |
| NM_001145944.1:c.73C>A | NP_001139416.1:p.Pro25Thr | |
| NM_001145945.1:c.427C>A | NP_001139417.1:p.Pro143Thr | |
| NM_001145946.1:c.427C>A | NP_001139418.1:p.Pro143Thr | |
| NM_017435.4:c.427C>A | NP_059131.1:p.Pro143Thr | |
| XM_005253394.1:c.427C>A | XP_005253451.1:p.Pro143Thr | |
| XM_005253396.1:c.73C>A | XP_005253453.1:p.Pro25Thr | |
| XM_005253397.2:c.427C>A | XP_005253454.1:p.Pro143Thr | |
| XM_011520703.1:c.427C>A | XP_011519005.1:p.Pro143Thr | |
| XM_011520704.1:c.427C>A | XP_011519006.1:p.Pro143Thr | |
| XM_011520705.1:c.427C>A | XP_011519007.1:p.Pro143Thr | |
| XM_011520706.1:c.73C>A | XP_011519008.1:p.Pro25Thr | |
| XM_011520707.1:c.73C>A | XP_011519009.1:p.Pro25Thr | |
| XM_011520708.1:c.73C>A | XP_011519010.1:p.Pro25Thr | |
| XM_011520709.1:c.73C>A | XP_011519011.1:p.Pro25Thr | |
| XM_011520710.1:c.427C>A | XP_011519012.1:p.Pro143Thr | |
| XM_011520711.1:c.-72C>A | XP_011519013.1:n.-72C>A | |
| XR_931308.1:n.782C>A | ||
| XM_005253394.3:c.427C>A | XP_005253451.1:p.Pro143Thr | |
| XM_005253396.3:c.73C>A | XP_005253453.1:p.Pro25Thr | |
| XM_011520703.3:c.427C>A | XP_011519005.1:p.Pro143Thr | |
| XM_011520704.3:c.427C>A | XP_011519006.1:p.Pro143Thr | |
| XM_011520711.3:c.-72C>A | XP_011519013.1:n.-72C>A | |
| XM_017019486.2:c.73C>A | XP_016874975.1:p.Pro25Thr | |
| XM_017019487.2:c.73C>A | XP_016874976.1:p.Pro25Thr | |
| XM_017019489.2:c.-229C>A | XP_016874978.1:n.-229C>A | |
| XM_017019490.2:c.-193C>A | XP_016874979.1:n.-193C>A | |
| XM_024449024.1:c.73C>A | XP_024304792.1:p.Pro25Thr | |
| XM_024449025.1:c.73C>A | XP_024304793.1:p.Pro25Thr | |
| XR_001748768.2:n.13840C>A | ||
| XR_001748769.2:n.13840C>A | ||
| XR_001748770.2:n.13840C>A | ||
| XR_001748771.2:n.14337C>A | ||
| NM_001145944.2:c.73C>A | NP_001139416.1:p.Pro25Thr | |
| NM_001145945.2:c.427C>A | NP_001139417.1:p.Pro143Thr | |
| NM_001145946.2:c.427C>A | NP_001139418.1:p.Pro143Thr | |
| NM_017435.5:c.427C>A MANE Select | NP_059131.1:p.Pro143Thr |