Revel Score:
ENST00000388922 (MANE Select)
0.202
ENST00000267008
0.202
ENST00000550683
0.202
ENST00000548659
0.202
ENST00000419526
0.202
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51920774G>T , CM000674.2:g.51920774G>T | GRCh38 |
| NC_000012.11:g.52314558G>T , CM000674.1:g.52314558G>T | GRCh37 |
| NC_000012.10:g.50600825G>T | NCBI36 |
| NG_009549.1:g.18357G>T , LRG_543:g.18357G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.1123G>T | ENSP00000446724.2:p.Ala375Ser | |
| ENST00000551576.6:c.1393G>T | ENSP00000455848.2:p.Ala465Ser | |
| ENST00000388922.9:c.1393G>T MANE Select | ENSP00000373574.4:p.Ala465Ser | |
| ENST00000388922.8:c.1393G>T | ENSP00000373574.4:p.Ala465Ser | |
| ENST00000419526.6:c.871G>T | ENSP00000392492.2:p.Ala291Ser | |
| ENST00000550683.5:c.1435G>T | ENSP00000447884.1:p.Ala479Ser | |
| NM_000020.2:c.1393G>T , LRG_543t1:c.1393G>T | NP_000011.2:p.Ala465Ser | |
| NM_001077401.1:c.1393G>T | NP_001070869.1:p.Ala465Ser | |
| XM_005269235.2:c.1393G>T | XP_005269292.1:p.Ala465Ser | |
| XM_011539008.1:c.1123G>T | XP_011537310.1:p.Ala375Ser | |
| XM_024449279.1:c.604G>T | XP_024305047.1:p.Ala202Ser | |
| NM_000020.3:c.1393G>T MANE Select | NP_000011.2:p.Ala465Ser | |
| NM_001077401.2:c.1393G>T | NP_001070869.1:p.Ala465Ser |