Revel Score:
ENST00000388922 (MANE Select)
0.565
ENST00000267008
0.565
ENST00000547400
0.565
ENST00000550683
0.565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51913345T>C , CM000674.2:g.51913345T>C | GRCh38 |
| NC_000012.11:g.52307129T>C , CM000674.1:g.52307129T>C | GRCh37 |
| NC_000012.10:g.50593396T>C | NCBI36 |
| NG_009549.1:g.10928T>C , LRG_543:g.10928T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.350T>C | ENSP00000446724.2:p.Leu117Pro | |
| ENST00000551576.6:c.308T>C | ENSP00000455848.2:p.Leu103Pro | |
| ENST00000552678.2:c.308T>C | ENSP00000457394.2:p.Leu103Pro | |
| ENST00000388922.9:c.308T>C MANE Select | ENSP00000373574.4:p.Leu103Pro | |
| ENST00000388922.8:c.308T>C | ENSP00000373574.4:p.Leu103Pro | |
| ENST00000419526.6:c.103+810T>C | ENSP00000392492.2:n.103+810T>C | |
| ENST00000547400.5:c.350T>C | ENSP00000446724.1:p.Leu117Pro | |
| ENST00000550683.5:c.350T>C | ENSP00000447884.1:p.Leu117Pro | |
| NM_000020.2:c.308T>C , LRG_543t1:c.308T>C | NP_000011.2:p.Leu103Pro | |
| NM_001077401.1:c.308T>C | NP_001070869.1:p.Leu103Pro | |
| XM_005269235.2:c.308T>C | XP_005269292.1:p.Leu103Pro | |
| XM_011539008.1:c.350T>C | XP_011537310.1:p.Leu117Pro | |
| XM_024449279.1:c.-382T>C | XP_024305047.1:n.-382T>C | |
| NM_000020.3:c.308T>C MANE Select | NP_000011.2:p.Leu103Pro | |
| NM_001077401.2:c.308T>C | NP_001070869.1:p.Leu103Pro |