Revel Score:
ENST00000381573
0.121
ENST00000381577 (MANE Select)
0.121
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00456691 (AMR)
Genomes Max Group AF
0.00490277 (AMR)
Exomes Max Group AF
0.00434979 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.5462876C>G , CM000671.2:g.5462876C>G | GRCh38 |
| NC_000009.11:g.5462876C>G , CM000671.1:g.5462876C>G | GRCh37 |
| NC_000009.10:g.5452876C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381577.4:c.437C>G MANE Select | ENSP00000370989.3:p.Pro146Arg | |
| ENST00000381573.8:c.95C>G | ENSP00000370985.4:p.Pro32Arg | |
| ENST00000381577.3:c.437C>G | ENSP00000370989.3:p.Pro146Arg | |
| ENST00000474218.1:n.80C>G | ||
| ENST00000498261.1:n.437C>G | ||
| NM_001267706.1:c.95C>G | NP_001254635.1:p.Pro32Arg | |
| NM_001314029.1:c.437C>G | NP_001300958.1:p.Pro146Arg | |
| NM_014143.3:c.437C>G | NP_054862.1:p.Pro146Arg | |
| NR_052005.1:n.545C>G | ||
| XM_006716759.2:c.437C>G | XP_006716822.1:p.Pro146Arg | |
| NM_014143.4:c.437C>G MANE Select | NP_054862.1:p.Pro146Arg | |
| NM_001314029.2:c.437C>G | NP_001300958.1:p.Pro146Arg | |
| NR_052005.2:n.506C>G | ||
| NM_001267706.2:c.95C>G | NP_001254635.1:p.Pro32Arg |