ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Revel Score:
ENST00000252321 (MANE Select)
0.378
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044167C>G , CM000674.2:g.5044167C>G | GRCh38 |
| NC_000012.11:g.5153333C>G , CM000674.1:g.5153333C>G | GRCh37 |
| NC_000012.10:g.5023594C>G | NCBI36 |
| NG_012198.1:g.5249C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.20C>G MANE Select | ENSP00000252321.3:p.Pro7Arg | |
| ENST00000252321.4:c.20C>G | ENSP00000252321.3:p.Pro7Arg | |
| NM_002234.3:c.20C>G | NP_002225.2:p.Pro7Arg | |
| NM_002234.4:c.20C>G MANE Select | NP_002225.2:p.Pro7Arg |