Revel Score:
ENST00000354593
0.142
ENST00000336411
0.142
ENST00000544160
0.142
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003341 (NFE)
Genomes Max Group AF
0.00011227 (NFE)
Exomes Max Group AF
0.00002541 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99768360A>G , CM000669.2:g.99768360A>G | GRCh38 |
| NC_000007.13:g.99365983A>G , CM000669.1:g.99365983A>G | GRCh37 |
| NC_000007.12:g.99203919A>G | NCBI36 |
| NG_008421.1:g.20826T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.664T>C | ENSP00000337915.3:p.Ser222Pro | |
| ENST00000651514.1:c.664T>C MANE Select | ENSP00000498939.1:p.Ser222Pro | |
| ENST00000651783.1:c.205T>C | ENSP00000498924.1:p.Ser69Pro | |
| ENST00000652018.1:c.517T>C | ENSP00000498733.1:p.Ser173Pro | |
| ENST00000336411.6:c.664T>C | ENSP00000337915.2:p.Ser222Pro | |
| ENST00000354593.6:c.214T>C | ENSP00000346607.2:p.Ser72Pro | |
| NM_001202855.2:c.664T>C | NP_001189784.1:p.Ser222Pro | |
| NM_017460.5:c.664T>C | NP_059488.2:p.Ser222Pro | |
| XM_011515841.1:c.664T>C | XP_011514143.1:p.Ser222Pro | |
| XM_011515842.1:c.664T>C | XP_011514144.1:p.Ser222Pro | |
| NM_017460.6:c.664T>C MANE Select | NP_059488.2:p.Ser222Pro | |
| NM_001202855.3:c.664T>C | NP_001189784.1:p.Ser222Pro |