Revel Score:
ENST00000354593
0.493
ENST00000336411
0.493
ENST00000544160
0.493
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00082916 (EAS)
Genomes Max Group AF
0.00050327 (EAS)
Exomes Max Group AF
0.00080494 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99768371G>C , CM000669.2:g.99768371G>C | GRCh38 |
| NC_000007.13:g.99365994G>C , CM000669.1:g.99365994G>C | GRCh37 |
| NC_000007.12:g.99203930G>C | NCBI36 |
| NG_008421.1:g.20815C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.653C>G | ENSP00000337915.3:p.Pro218Arg | |
| ENST00000651514.1:c.653C>G MANE Select | ENSP00000498939.1:p.Pro218Arg | |
| ENST00000651783.1:c.194C>G | ENSP00000498924.1:p.Pro65Arg | |
| ENST00000652018.1:c.506C>G | ENSP00000498733.1:p.Pro169Arg | |
| ENST00000336411.6:c.653C>G | ENSP00000337915.2:p.Pro218Arg | |
| ENST00000354593.6:c.203C>G | ENSP00000346607.2:p.Pro68Arg | |
| NM_001202855.2:c.653C>G | NP_001189784.1:p.Pro218Arg | |
| NM_017460.5:c.653C>G | NP_059488.2:p.Pro218Arg | |
| XM_011515841.1:c.653C>G | XP_011514143.1:p.Pro218Arg | |
| XM_011515842.1:c.653C>G | XP_011514144.1:p.Pro218Arg | |
| NM_017460.6:c.653C>G MANE Select | NP_059488.2:p.Pro218Arg | |
| NM_001202855.3:c.653C>G | NP_001189784.1:p.Pro218Arg |