Revel Score:
ENST00000368223 (MANE Select)
0.336
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156670364G>C , CM000663.2:g.156670364G>C | GRCh38 |
| NC_000001.10:g.156640156G>C , CM000663.1:g.156640156G>C | GRCh37 |
| NC_000001.9:g.154906780G>C | NCBI36 |
| NG_012300.1:g.12034C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368223.4:c.3824C>G MANE Select | ENSP00000357206.3:p.Pro1275Arg | |
| ENST00000368223.3:c.3824C>G | ENSP00000357206.3:p.Pro1275Arg | |
| NM_006617.1:c.3824C>G | NP_006608.1:p.Pro1275Arg | |
| NM_006617.2:c.3824C>G MANE Select | NP_006608.1:p.Pro1275Arg |