COSMIC:
COSM147908 (not active)
Revel Score:
ENST00000251076
0.027
ENST00000543779
0.027
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51591355 (NFE)
Genomes Max Group AF
0.51570722 (NFE)
Exomes Max Group AF
0.51568212 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.51499362A>G , CM000677.2:g.51499362A>G | GRCh38 |
| NC_000015.9:g.51791559A>G , CM000677.1:g.51791559A>G | GRCh37 |
| NC_000015.8:g.49578851A>G | NCBI36 |
| NG_017155.1:g.128409T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560891.6:c.3862T>C MANE Select | ENSP00000453267.2:p.Ser1288Pro | |
| ENST00000251076.9:c.3862T>C | ENSP00000251076.5:p.Ser1288Pro | |
| ENST00000449909.7:c.2765-4228T>C | ENSP00000400855.3:n.2765-4228T>C | |
| ENST00000543779.6:c.3862T>C | ENSP00000441858.2:p.Ser1288Pro | |
| NM_001174116.1:c.3862T>C | NP_001167587.1:p.Ser1288Pro | |
| NM_001174117.1:c.2765-4228T>C | NP_001167588.1:n.2765-4228T>C | |
| NM_015263.3:c.3862T>C | NP_056078.2:p.Ser1288Pro | |
| XM_005254255.1:c.3862T>C | XP_005254312.1:p.Ser1288Pro | |
| XM_005254256.1:c.3862T>C | XP_005254313.1:p.Ser1288Pro | |
| XM_011521402.1:c.3862T>C | XP_011519704.1:p.Ser1288Pro | |
| XR_243084.1:n.4150T>C | ||
| XR_243085.1:n.4150T>C | ||
| XR_931779.1:n.4150T>C | ||
| XR_931780.1:n.4150T>C | ||
| XR_931781.1:n.4150T>C | ||
| XR_931782.1:n.4150T>C | ||
| XM_011521402.3:c.3862T>C | XP_011519704.1:p.Ser1288Pro | |
| XM_017022034.1:c.3808T>C | XP_016877523.1:p.Ser1270Pro | |
| XR_001751173.1:n.4150T>C | ||
| XR_001751174.1:n.4150T>C | ||
| XR_001751175.1:n.4150T>C | ||
| XR_001751176.1:n.4150T>C | ||
| XR_001751177.1:n.4150T>C | ||
| XR_931779.2:n.4150T>C | ||
| XR_931780.2:n.4150T>C | ||
| XR_931781.2:n.4150T>C | ||
| XR_931782.2:n.4150T>C | ||
| NM_001174116.2:c.3862T>C | NP_001167587.1:p.Ser1288Pro | |
| NM_001174117.2:c.2765-4228T>C | NP_001167588.1:n.2765-4228T>C | |
| NM_015263.4:c.3862T>C | NP_056078.2:p.Ser1288Pro | |
| NM_001174116.3:c.3862T>C | NP_001167587.1:p.Ser1288Pro | |
| NM_001174117.3:c.2765-4228T>C | NP_001167588.1:n.2765-4228T>C | |
| NM_001378457.1:c.3862T>C MANE Select | NP_001365386.1:p.Ser1288Pro | |
| NM_001378458.1:c.3862T>C | NP_001365387.1:p.Ser1288Pro | |
| NM_001378459.1:c.3862T>C | NP_001365388.1:p.Ser1288Pro | |
| NM_001378460.1:c.2765-7615T>C | NP_001365389.1:n.2765-7615T>C | |
| NM_001378461.1:c.3862T>C | NP_001365390.1:p.Ser1288Pro | |
| NM_001378462.1:c.3862T>C | NP_001365391.1:p.Ser1288Pro | |
| NM_001378463.1:c.3862T>C | NP_001365392.1:p.Ser1288Pro | |
| NM_001378464.1:c.3622T>C | NP_001365393.1:p.Ser1208Pro | |
| NM_015263.5:c.3862T>C | NP_056078.2:p.Ser1288Pro | |
| NR_165648.1:n.4088T>C | ||
| NR_165649.1:n.4088T>C |