Revel Score:
ENST00000324727 (MANE Select)
0.819
ENST00000529878
0.819
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118141315A>C , CM000673.2:g.118141315A>C | GRCh38 |
| NC_000011.9:g.118012030A>C , CM000673.1:g.118012030A>C | GRCh37 |
| NC_000011.8:g.117517240A>C | NCBI36 |
| NG_011710.1:g.16601T>G , LRG_330:g.16601T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324727.9:c.485T>G MANE Select | ENSP00000322460.4:p.Val162Gly | |
| ENST00000324727.8:c.485T>G | ENSP00000322460.4:p.Val162Gly | |
| ENST00000415030.6:n.628T>G | ||
| ENST00000423160.2:n.119T>G | ||
| ENST00000529878.1:c.83T>G | ENSP00000436343.1:p.Val28Gly | |
| ENST00000531550.1:n.550T>G | ||
| ENST00000532138.1:n.741T>G | ||
| NM_001142348.1:c.83T>G | NP_001135820.1:p.Val28Gly | |
| NM_001142349.1:c.155T>G | NP_001135821.1:p.Val52Gly | |
| NM_174934.3:c.485T>G , LRG_330t1:c.485T>G | NP_777594.1:p.Val162Gly | |
| NR_024527.1:n.510T>G | ||
| NM_001142348.2:c.83T>G | NP_001135820.1:p.Val28Gly | |
| NM_001142349.2:c.155T>G | NP_001135821.1:p.Val52Gly | |
| NR_024527.2:n.474T>G | ||
| NM_174934.4:c.485T>G MANE Select | NP_777594.1:p.Val162Gly |