Revel Score:
ENST00000246515 (MANE Select)
0.538
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142742385T>C , CM000670.2:g.142742385T>C | GRCh38 |
| NC_000008.10:g.143823803T>C , CM000670.1:g.143823803T>C | GRCh37 |
| NC_000008.9:g.143820805T>C | NCBI36 |
| NG_011494.1:g.5027A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246515.2:c.1A>G MANE Select | ENSP00000246515.1:p.Met1Val | |
| ENST00000246515.1:c.1A>G | ENSP00000246515.1:p.Met1Val | |
| NM_020427.2:c.1A>G | NP_065160.1:p.Met1Val | |
| NM_020427.3:c.1A>G MANE Select | NP_065160.1:p.Met1Val |