Revel Score:
ENST00000176183 (MANE Select)
0.372
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.639830T>C , CM000673.2:g.639830T>C | GRCh38 |
| NC_000011.9:g.639830T>C , CM000673.1:g.639830T>C | GRCh37 |
| NC_000011.8:g.629830T>C | NCBI36 |
| NG_021241.1:g.7526T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176183.6:c.581T>C MANE Select | ENSP00000176183.5:p.Val194Ala | |
| ENST00000176183.5:c.581T>C | ENSP00000176183.5:p.Val194Ala | |
| NM_000797.3:c.581T>C | NP_000788.2:p.Val194Ala | |
| NM_000797.4:c.581T>C MANE Select | NP_000788.2:p.Val194Ala |