Revel Score:
ENST00000378454 (MANE Select)
0.096
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290947A>C , CM000668.2:g.24290947A>C | GRCh38 |
| NC_000006.11:g.24291175A>C , CM000668.1:g.24291175A>C | GRCh37 |
| NC_000006.10:g.24399154A>C | NCBI36 |
| NG_012829.1:g.72106T>G | |
| NG_012829.2:g.97346T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.689T>G MANE Select | ENSP00000367715.3:p.Met230Arg | |
| ENST00000378454.7:c.689T>G | ENSP00000367715.3:p.Met230Arg | |
| NM_001195610.1:c.689T>G | NP_001182539.1:p.Met230Arg | |
| NM_016356.4:c.689T>G | NP_057440.2:p.Met230Arg | |
| NM_016356.5:c.689T>G MANE Select | NP_057440.2:p.Met230Arg | |
| NM_001195610.2:c.689T>G | NP_001182539.1:p.Met230Arg |