Revel Score:
ENST00000339797
0.282
ENST00000351556
0.282
ENST00000395559
0.282
ENST00000337653 (MANE Select)
0.282
ENST00000395562
0.282
ENST00000455728
0.282
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49648606G>C , CM000672.2:g.49648606G>C | GRCh38 |
| NC_000010.10:g.50856652G>C , CM000672.1:g.50856652G>C | GRCh37 |
| NC_000010.9:g.50526658G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337653.7:c.1381G>C MANE Select | ENSP00000337103.2:p.Val461Leu | |
| ENST00000638282.1:c.*218G>C | ENSP00000492646.1:n.*218G>C | |
| ENST00000640822.1:c.244G>C | ENSP00000491328.1:p.Val82Leu | |
| ENST00000337653.6:c.1381G>C | ENSP00000337103.2:p.Val461Leu | |
| ENST00000339797.5:c.1027G>C | ENSP00000343486.1:p.Val343Leu | |
| ENST00000351556.7:c.1027G>C | ENSP00000345878.3:p.Val343Leu | |
| ENST00000395559.6:c.1027G>C | ENSP00000378926.2:p.Val343Leu | |
| ENST00000395562.2:c.1135G>C | ENSP00000378929.2:p.Val379Leu | |
| ENST00000466590.6:c.*1112G>C | ENSP00000473443.1:n.*1112G>C | |
| NM_001142929.2:c.1027G>C | NP_001136401.2:p.Val343Leu | |
| NM_001142933.2:c.1135G>C | NP_001136405.2:p.Val379Leu | |
| NM_001142934.2:c.1027G>C | NP_001136406.2:p.Val343Leu | |
| NM_020549.5:c.1381G>C MANE Select | NP_065574.4:p.Val461Leu | |
| NM_020984.4:c.1027G>C | NP_066264.4:p.Val343Leu | |
| NM_020985.4:c.1027G>C | NP_066265.4:p.Val343Leu | |
| NM_020986.4:c.1027G>C | NP_066266.4:p.Val343Leu |