Revel Score:
ENST00000244321
0.055
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43577136A>C , CM000681.2:g.43577136A>C | GRCh38 |
| NC_000019.9:g.44081288A>C , CM000681.1:g.44081288A>C | GRCh37 |
| NC_000019.8:g.48773128A>C | NCBI36 |
| NG_033799.1:g.3443T>G , LRG_784:g.3443T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599207.6:c.-56A>C (PINLYP) MANE Select | ENSP00000469886.1:n.-56A>C | |
| ENST00000244321.10:n.142A>C (PINLYP) | ||
| ENST00000594374.1:c.169+15732T>G | ||
| ENST00000598165.5:c.73-2134T>G (XRCC1) | ENSP00000470045.1:n.73-2134T>G | |
| ENST00000599693.5:c.70+3229T>G (XRCC1) | ||
| ENST00000612042.4:c.17A>C (PINLYP) | ENSP00000479240.1:p.His6Pro | |
| NM_001193621.1:c.17A>C (PINLYP) | NP_001180550.1:p.His6Pro | |
| XM_011526970.1:c.17A>C (PINLYP) | XP_011525272.1:p.His6Pro | |
| NM_001193621.2:c.-56A>C (PINLYP) | NP_001180550.2:n.-56A>C | |
| NM_001193621.3:c.-56A>C (PINLYP) MANE Select | NP_001180550.2:n.-56A>C |