Revel Score:
ENST00000388922 (MANE Select)
0.778
ENST00000267008
0.778
ENST00000550683
0.778
ENST00000548659
0.778
ENST00000419526
0.778
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51915407G>T , CM000674.2:g.51915407G>T | GRCh38 |
| NC_000012.11:g.52309191G>T , CM000674.1:g.52309191G>T | GRCh37 |
| NC_000012.10:g.50595458G>T | NCBI36 |
| NG_009549.1:g.12990G>T , LRG_543:g.12990G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.685G>T | ENSP00000446724.2:p.Gly229Cys | |
| ENST00000551576.6:c.955G>T | ENSP00000455848.2:p.Gly319Cys | |
| ENST00000552678.2:c.955G>T | ENSP00000457394.2:p.Gly319Cys | |
| ENST00000388922.9:c.955G>T MANE Select | ENSP00000373574.4:p.Gly319Cys | |
| ENST00000388922.8:c.955G>T | ENSP00000373574.4:p.Gly319Cys | |
| ENST00000419526.6:c.433G>T | ENSP00000392492.2:p.Gly145Cys | |
| ENST00000550683.5:c.997G>T | ENSP00000447884.1:p.Gly333Cys | |
| NM_000020.2:c.955G>T , LRG_543t1:c.955G>T | NP_000011.2:p.Gly319Cys | |
| NM_001077401.1:c.955G>T | NP_001070869.1:p.Gly319Cys | |
| XM_005269235.2:c.955G>T | XP_005269292.1:p.Gly319Cys | |
| XM_011539008.1:c.685G>T | XP_011537310.1:p.Gly229Cys | |
| XM_024449279.1:c.166G>T | XP_024305047.1:p.Gly56Cys | |
| NM_000020.3:c.955G>T MANE Select | NP_000011.2:p.Gly319Cys | |
| NM_001077401.2:c.955G>T | NP_001070869.1:p.Gly319Cys |