Revel Score:
ENST00000410009 (MANE Select)
0.048
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70831139C>A , CM000664.2:g.70831139C>A | GRCh38 |
| NC_000002.11:g.71058270C>A , CM000664.1:g.71058270C>A | GRCh37 |
| NC_000002.10:g.70911778C>A | NCBI36 |
| NG_033914.1:g.9685G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410009.5:c.898G>T MANE Select | ENSP00000386378.3:p.Ala300Ser | |
| ENST00000410009.4:c.898G>T | ENSP00000386378.3:p.Ala300Ser | |
| NM_015717.4:c.898G>T | NP_056532.4:p.Ala300Ser | |
| XM_011532874.1:c.898G>T | XP_011531176.1:p.Ala300Ser | |
| XM_011532875.1:c.850+48G>T | XP_011531177.1:n.850+48G>T | |
| XM_011532876.1:c.836+562G>T | XP_011531178.1:n.836+562G>T | |
| XM_011532875.2:c.850+48G>T | XP_011531177.1:n.850+48G>T | |
| XM_011532876.2:c.836+562G>T | XP_011531178.1:n.836+562G>T | |
| NM_015717.5:c.898G>T MANE Select | NP_056532.4:p.Ala300Ser |