Revel Score:
ENST00000328736
0.109
ENST00000556564 (MANE Select)
0.109
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88480278G>T , CM000676.2:g.88480278G>T | GRCh38 |
| NC_000014.8:g.88946622G>T , CM000676.1:g.88946622G>T | GRCh37 |
| NC_000014.7:g.88016375G>T | NCBI36 |
| NG_046949.1:g.79502C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556564.6:c.1153C>A MANE Select | ENSP00000452414.1:p.Leu385Ile | |
| ENST00000328736.7:c.1153C>A | ENSP00000330276.3:p.Leu385Ile | |
| ENST00000536337.5:c.*1090C>A | ENSP00000443951.1:n.*1090C>A | |
| ENST00000554270.5:n.1266C>A | ||
| ENST00000556564.5:c.1153C>A | ENSP00000452414.1:p.Leu385Ile | |
| NM_007039.3:c.1153C>A | NP_008970.2:p.Leu385Ile | |
| XM_005267287.1:c.1153C>A | XP_005267344.1:p.Leu385Ile | |
| XM_006720011.2:c.784C>A | XP_006720074.1:p.Leu262Ile | |
| XM_011536367.1:c.1153C>A | XP_011534669.1:p.Leu385Ile | |
| XM_011536368.1:c.784C>A | XP_011534670.1:p.Leu262Ile | |
| XM_011536369.1:c.541C>A | XP_011534671.1:p.Leu181Ile | |
| XM_005267287.3:c.1153C>A | XP_005267344.1:p.Leu385Ile | |
| XM_006720011.3:c.784C>A | XP_006720074.1:p.Leu262Ile | |
| XM_011536367.3:c.1153C>A | XP_011534669.1:p.Leu385Ile | |
| XM_011536368.2:c.784C>A | XP_011534670.1:p.Leu262Ile | |
| XM_011536369.2:c.541C>A | XP_011534671.1:p.Leu181Ile | |
| XM_017020938.2:c.784C>A | XP_016876427.1:p.Leu262Ile | |
| XM_017020939.1:c.541C>A | XP_016876428.1:p.Leu181Ile | |
| NM_007039.4:c.1153C>A MANE Select | NP_008970.2:p.Leu385Ile |