ClinVar Variation:
dbSNP:
Revel Score:
ENST00000228841 (MANE Select)
0.623
ENST00000548438
0.623
ENST00000550439
0.623
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110919117T>C , CM000674.2:g.110919117T>C | GRCh38 |
| NC_000012.11:g.111356921T>C , CM000674.1:g.111356921T>C | GRCh37 |
| NC_000012.10:g.109841304T>C | NCBI36 |
| NG_007554.1:g.6461A>G , LRG_393:g.6461A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.80A>G MANE Select | ENSP00000228841.8:p.Gln27Arg | |
| ENST00000663220.1:c.23A>G | ENSP00000499568.1:p.Gln8Arg | |
| ENST00000228841.12:c.80A>G | ENSP00000228841.7:p.Gln27Arg | |
| ENST00000546404.1:n.273A>G | ||
| ENST00000548438.1:c.80A>G | ENSP00000447154.1:p.Gln27Arg | |
| NM_000432.3:c.80A>G , LRG_393t1:c.80A>G | NP_000423.2:p.Gln27Arg | |
| NM_000432.4:c.80A>G MANE Select | NP_000423.2:p.Gln27Arg |