Revel Score:
ENST00000376630 (MANE Select)
0.072
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30490287G>T , CM000668.2:g.30490287G>T | GRCh38 |
| NC_000006.11:g.30458064G>T , CM000668.1:g.30458064G>T | GRCh37 |
| NC_000006.10:g.30566043G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376630.5:c.382G>T MANE Select | ENSP00000365817.4:p.Gly128Trp | |
| ENST00000376630.4:c.382G>T | ENSP00000365817.4:p.Gly128Trp | |
| ENST00000484194.1:n.648G>T | ||
| ENST00000493699.1:n.532G>T | ||
| NM_005516.5:c.382G>T | NP_005507.3:p.Gly128Trp | |
| XM_017010807.1:c.505G>T | XP_016866296.1:p.Gly169Trp | |
| XM_017010808.1:c.505G>T | XP_016866297.1:p.Gly169Trp | |
| XM_017010809.2:c.382G>T | XP_016866298.1:p.Gly128Trp | |
| NM_005516.6:c.382G>T MANE Select | NP_005507.3:p.Gly128Trp |