Revel Score:
ENST00000373203 (MANE Select)
0.385
ENST00000344849
0.385
ENST00000545345
0.385
ENST00000546301
0.385
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127818825A>C , CM000671.2:g.127818825A>C | GRCh38 |
| NC_000009.11:g.130581104A>C , CM000671.1:g.130581104A>C | GRCh37 |
| NC_000009.10:g.129620925A>C | NCBI36 |
| NG_009551.1:g.40944T>G , LRG_589:g.40944T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.773T>G | ENSP00000479015.1:p.Val258Gly | |
| ENST00000373203.9:c.1319T>G MANE Select | ENSP00000362299.4:p.Val440Gly | |
| ENST00000344849.4:c.1319T>G | ENSP00000341917.3:p.Val440Gly | |
| ENST00000373203.8:c.1319T>G | ENSP00000362299.4:p.Val440Gly | |
| ENST00000480266.5:c.773T>G | ENSP00000479015.1:p.Val258Gly | |
| NM_000118.3:c.1319T>G , LRG_589t1:c.1319T>G | NP_000109.1:p.Val440Gly | |
| NM_001114753.2:c.1319T>G , LRG_589t2:c.1319T>G | NP_001108225.1:p.Val440Gly | |
| NM_001278138.1:c.773T>G | NP_001265067.1:p.Val258Gly | |
| NR_136302.1:n.1568+114A>C | ||
| NM_001114753.3:c.1319T>G MANE Select | NP_001108225.1:p.Val440Gly | |
| NM_001278138.2:c.773T>G | NP_001265067.1:p.Val258Gly |