Revel Score:
ENST00000306801 (MANE Select)
0.297
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007664 (AMR)
Genomes Max Group AF
0.00021485 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80885134C>G , CM000679.2:g.80885134C>G | GRCh38 |
| NC_000017.10:g.78858934C>G , CM000679.1:g.78858934C>G | GRCh37 |
| NC_000017.9:g.76473529C>G | NCBI36 |
| NG_013034.1:g.345310C>G | |
| NG_013034.2:g.345310C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697423.1:c.2023C>G | ENSP00000513305.1:p.Pro675Ala | |
| ENST00000306801.8:c.1969C>G MANE Select | ENSP00000307272.3:p.Pro657Ala | |
| ENST00000306801.7:c.1969C>G | ENSP00000307272.3:p.Pro657Ala | |
| ENST00000544334.6:c.1510-6586C>G | ENSP00000442479.2:n.1510-6586C>G | |
| ENST00000575542.5:n.1456C>G | ||
| ENST00000577161.5:n.2768C>G | ||
| NM_001163034.1:c.1510-6586C>G | NP_001156506.1:n.1510-6586C>G | |
| NM_020761.2:c.1969C>G | NP_065812.1:p.Pro657Ala | |
| NM_020761.3:c.1969C>G MANE Select | NP_065812.1:p.Pro657Ala | |
| NM_001163034.2:c.1510-6586C>G | NP_001156506.1:n.1510-6586C>G |