Revel Score:
ENST00000335508 (MANE Select)
0.388
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197401887C>A , CM000664.2:g.197401887C>A | GRCh38 |
| NC_000002.11:g.198266611C>A , CM000664.1:g.198266611C>A | GRCh37 |
| NC_000002.10:g.197974856C>A | NCBI36 |
| NG_032903.2:g.38161G>T , LRG_624:g.38161G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335508.11:c.2225G>T MANE Select | ENSP00000335321.6:p.Gly742Val | |
| ENST00000470268.2:n.4109G>T | ||
| ENST00000652026.1:c.*3292G>T | ENSP00000498652.1:n.*3292G>T | |
| ENST00000652738.1:c.*2484G>T | ENSP00000499119.1:n.*2484G>T | |
| ENST00000335508.10:c.2225G>T | ENSP00000335321.5:p.Gly742Val | |
| NM_012433.2:c.2225G>T | NP_036565.2:p.Gly742Val | |
| NM_012433.3:c.2225G>T , LRG_624t2:c.2225G>T | NP_036565.2:p.Gly742Val | |
| XM_011510867.1:c.1787G>T | XP_011509169.1:p.Gly596Val | |
| XM_011510868.1:c.1787G>T | XP_011509170.1:p.Gly596Val | |
| XR_241300.2:n.2317G>T | ||
| XR_001738680.2:n.2270G>T | ||
| NM_012433.4:c.2225G>T MANE Select | NP_036565.2:p.Gly742Val |