Revel Score:
ENST00000388922 (MANE Select)
0.985
ENST00000267008
0.985
ENST00000550683
0.985
ENST00000548659
0.985
ENST00000419526
0.985
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51915306T>C , CM000674.2:g.51915306T>C | GRCh38 |
| NC_000012.11:g.52309090T>C , CM000674.1:g.52309090T>C | GRCh37 |
| NC_000012.10:g.50595357T>C | NCBI36 |
| NG_009549.1:g.12889T>C , LRG_543:g.12889T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.584T>C | ENSP00000446724.2:p.Leu195Pro | |
| ENST00000551576.6:c.854T>C | ENSP00000455848.2:p.Leu285Pro | |
| ENST00000552678.2:c.854T>C | ENSP00000457394.2:p.Leu285Pro | |
| ENST00000388922.9:c.854T>C MANE Select | ENSP00000373574.4:p.Leu285Pro | |
| ENST00000388922.8:c.854T>C | ENSP00000373574.4:p.Leu285Pro | |
| ENST00000419526.6:c.332T>C | ENSP00000392492.2:p.Leu111Pro | |
| ENST00000550683.5:c.896T>C | ENSP00000447884.1:p.Leu299Pro | |
| NM_000020.2:c.854T>C , LRG_543t1:c.854T>C | NP_000011.2:p.Leu285Pro | |
| NM_001077401.1:c.854T>C | NP_001070869.1:p.Leu285Pro | |
| XM_005269235.2:c.854T>C | XP_005269292.1:p.Leu285Pro | |
| XM_011539008.1:c.584T>C | XP_011537310.1:p.Leu195Pro | |
| XM_024449279.1:c.65T>C | XP_024305047.1:p.Leu22Pro | |
| NM_000020.3:c.854T>C MANE Select | NP_000011.2:p.Leu285Pro | |
| NM_001077401.2:c.854T>C | NP_001070869.1:p.Leu285Pro |