Revel Score:
ENST00000361505 (MANE Select)
0.713
ENST00000554469
0.713
ENST00000553591
0.713
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20475120G>T , CM000676.2:g.20475120G>T | GRCh38 |
| NC_000014.8:g.20943279G>T , CM000676.1:g.20943279G>T | GRCh37 |
| NC_000014.7:g.20013119G>T | NCBI36 |
| NG_009631.1:g.10738G>T , LRG_91:g.10738G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553591.2:c.637G>T | ENSP00000452421.2:p.Ala213Ser | |
| ENST00000556293.6:n.2943G>T | ||
| ENST00000556754.2:n.3886G>T | ||
| ENST00000557229.6:n.949G>T | ||
| ENST00000697613.1:c.520G>T | ENSP00000513359.1:p.Ala174Ser | |
| ENST00000697614.1:c.283G>T | ENSP00000513360.1:p.Ala95Ser | |
| ENST00000697615.1:n.1348G>T | ||
| ENST00000361505.10:c.520G>T MANE Select | ENSP00000354532.6:p.Ala174Ser | |
| ENST00000361505.9:c.520G>T | ENSP00000354532.5:p.Ala174Ser | |
| ENST00000553591.1:c.637G>T | ENSP00000452421.1:p.Ala213Ser | |
| ENST00000554056.5:n.828G>T | ||
| ENST00000556754.1:n.1737G>T | ||
| ENST00000557229.5:n.949G>T | ||
| NM_000270.3:c.520G>T , LRG_91t1:c.520G>T | NP_000261.2:p.Ala174Ser | |
| NM_000270.4:c.520G>T MANE Select | NP_000261.2:p.Ala174Ser |