Revel Score:
ENST00000324071 (MANE Select)
0.068
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40991369C>A , CM000681.2:g.40991369C>A | GRCh38 |
| NC_000019.9:g.41497274C>A , CM000681.1:g.41497274C>A | GRCh37 |
| NC_000019.8:g.46189114C>A | NCBI36 |
| NG_007929.1:g.5071C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.64C>A MANE Select | ENSP00000324648.2:p.Arg22Ser | |
| ENST00000324071.8:c.64C>A | ENSP00000324648.2:p.Arg22Ser | |
| NM_000767.4:c.64C>A | NP_000758.1:p.Arg22Ser | |
| XM_005258569.3:c.64C>A | XP_005258626.1:p.Arg22Ser | |
| XM_006723050.2:c.64C>A | XP_006723113.1:p.Arg22Ser | |
| XM_011526546.1:c.64C>A | XP_011524848.1:p.Arg22Ser | |
| XM_011526547.1:c.64C>A | XP_011524849.1:p.Arg22Ser | |
| XM_011526548.1:c.64C>A | XP_011524850.1:p.Arg22Ser | |
| NM_000767.5:c.64C>A MANE Select | NP_000758.1:p.Arg22Ser |