ClinGen Evidence Repository:
Classification
Likely Pathogenic
Revel Score:
ENST00000252288 (MANE Select)
0.751
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1397447C>G , CM000681.2:g.1397447C>G | GRCh38 |
| NC_000019.9:g.1397446C>G , CM000681.1:g.1397446C>G | GRCh37 |
| NC_000019.8:g.1348446C>G | NCBI36 |
| NG_008283.1:g.18564C>G | |
| NG_009785.1:g.9107G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.623G>C MANE Select | ENSP00000252288.1:p.Arg208Pro | |
| ENST00000640164.1:n.456G>C | ||
| ENST00000640762.1:c.554G>C | ENSP00000492031.1:p.Arg185Pro | |
| ENST00000252288.6:c.623G>C | ENSP00000252288.1:p.Arg208Pro | |
| NM_000156.5:c.623G>C | NP_000147.1:p.Arg208Pro | |
| NM_000156.6:c.623G>C MANE Select | NP_000147.1:p.Arg208Pro |