Revel Score:
ENST00000354593
0.705
ENST00000336411
0.705
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00028325 (SAS)
Exomes Max Group AF
0.00029976 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99762047G>C , CM000669.2:g.99762047G>C | GRCh38 |
| NC_000007.13:g.99359670G>C , CM000669.1:g.99359670G>C | GRCh37 |
| NC_000007.12:g.99197606G>C | NCBI36 |
| NG_008421.1:g.27139C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.1247C>G | ENSP00000337915.3:p.Pro416Arg | |
| ENST00000651162.1:n.682C>G | ||
| ENST00000651514.1:c.1247C>G MANE Select | ENSP00000498939.1:p.Pro416Arg | |
| ENST00000651783.1:c.788C>G | ENSP00000498924.1:p.Pro263Arg | |
| ENST00000652018.1:c.1100C>G | ENSP00000498733.1:p.Pro367Arg | |
| ENST00000336411.6:c.1247C>G | ENSP00000337915.2:p.Pro416Arg | |
| ENST00000354593.6:c.797C>G | ENSP00000346607.2:p.Pro266Arg | |
| NM_001202855.2:c.1244C>G | NP_001189784.1:p.Pro415Arg | |
| NM_017460.5:c.1247C>G | NP_059488.2:p.Pro416Arg | |
| XM_011515841.1:c.1247C>G | XP_011514143.1:p.Pro416Arg | |
| XM_011515842.1:c.1244C>G | XP_011514144.1:p.Pro415Arg | |
| NM_017460.6:c.1247C>G MANE Select | NP_059488.2:p.Pro416Arg | |
| NM_001202855.3:c.1244C>G | NP_001189784.1:p.Pro415Arg |