Revel Score:
ENST00000299314 (MANE Select)
0.639
ENST00000549940
0.639
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101770477T>C , CM000674.2:g.101770477T>C | GRCh38 |
| NC_000012.11:g.102164255T>C , CM000674.1:g.102164255T>C | GRCh37 |
| NC_000012.10:g.100688386T>C | NCBI36 |
| NG_021243.1:g.65391A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.1042A>G MANE Select | ENSP00000299314.7:p.Ile348Val | |
| ENST00000299314.11:c.1042A>G | ENSP00000299314.7:p.Ile348Val | |
| ENST00000549940.5:c.1042A>G | ENSP00000449150.1:p.Ile348Val | |
| NM_024312.4:c.1042A>G | NP_077288.2:p.Ile348Val | |
| XM_006719593.2:c.1042A>G | XP_006719656.1:p.Ile348Val | |
| XM_011538731.1:c.961A>G | XP_011537033.1:p.Ile321Val | |
| XM_006719593.3:c.1042A>G | XP_006719656.1:p.Ile348Val | |
| XM_011538731.2:c.961A>G | XP_011537033.1:p.Ile321Val | |
| XM_017019961.1:c.826A>G | XP_016875450.1:p.Ile276Val | |
| XM_017019962.2:c.-186A>G | XP_016875451.1:n.-186A>G | |
| NM_024312.5:c.1042A>G MANE Select | NP_077288.2:p.Ile348Val |