Revel Score:
ENST00000263642
0.077
ENST00000543192
0.077
ENST00000421365
0.077
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162318034C>A , CM000664.2:g.162318034C>A | GRCh38 |
| NC_000002.11:g.163174544C>A , CM000664.1:g.163174544C>A | GRCh37 |
| NC_000002.10:g.162882790C>A | NCBI36 |
| NG_011495.1:g.5496G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.274G>T | ENSP00000513228.1:p.Ala92Ser | |
| ENST00000648433.1:c.274G>T | ENSP00000496816.1:p.Ala92Ser | |
| ENST00000649979.2:c.274G>T MANE Select | ENSP00000497271.1:p.Ala92Ser | |
| ENST00000679938.1:c.109G>T | ENSP00000505518.1:p.Ala37Ser | |
| ENST00000263642.2:c.274G>T | ENSP00000263642.2:p.Ala92Ser | |
| ENST00000421365.2:c.274G>T | ENSP00000408450.2:p.Ala92Ser | |
| NM_022168.3:c.274G>T | NP_071451.2:p.Ala92Ser | |
| XM_011511629.1:c.274G>T | XP_011509931.1:p.Ala92Ser | |
| NM_022168.4:c.274G>T MANE Select | NP_071451.2:p.Ala92Ser |