Revel Score:
ENST00000264717 (MANE Select)
0.522
ENST00000453813
0.522
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27498276G>C , CM000664.2:g.27498276G>C | GRCh38 |
| NC_000002.11:g.27721143G>C , CM000664.1:g.27721143G>C | GRCh37 |
| NC_000002.10:g.27574647G>C | NCBI36 |
| NG_028024.1:g.6438G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264717.7:c.307G>C MANE Select | ENSP00000264717.2:p.Val103Leu | |
| ENST00000264717.6:c.307G>C | ENSP00000264717.2:p.Val103Leu | |
| ENST00000417872.5:c.307G>C | ENSP00000398303.1:p.Val103Leu | |
| ENST00000453813.1:c.223G>C | ENSP00000399463.1:p.Val75Leu | |
| ENST00000472290.1:n.329G>C | ||
| NM_001486.3:c.307G>C | NP_001477.2:p.Val103Leu | |
| XM_011532761.1:c.307G>C | XP_011531063.1:p.Val103Leu | |
| XM_011532762.1:c.-197G>C | XP_011531064.1:n.-197G>C | |
| XM_011532763.1:c.307G>C | XP_011531065.1:p.Val103Leu | |
| XR_001738699.1:n.373G>C | ||
| NM_001486.4:c.307G>C MANE Select | NP_001477.2:p.Val103Leu |