ClinVar Variation:
dbSNP:
Revel Score:
ENST00000228841 (MANE Select)
0.558
ENST00000548438
0.558
ENST00000550439
0.558
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110914200C>G , CM000674.2:g.110914200C>G | GRCh38 |
| NC_000012.11:g.111352004C>G , CM000674.1:g.111352004C>G | GRCh37 |
| NC_000012.10:g.109836387C>G | NCBI36 |
| NG_007554.1:g.11378G>C , LRG_393:g.11378G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.260G>C MANE Select | ENSP00000228841.8:p.Gly87Ala | |
| ENST00000663220.1:c.203G>C | ENSP00000499568.1:p.Gly68Ala | |
| ENST00000228841.12:c.260G>C | ENSP00000228841.7:p.Gly87Ala | |
| ENST00000548438.1:c.218G>C | ENSP00000447154.1:p.Gly73Ala | |
| ENST00000549029.1:n.91G>C | ||
| NM_000432.3:c.260G>C , LRG_393t1:c.260G>C | NP_000423.2:p.Gly87Ala | |
| NM_000432.4:c.260G>C MANE Select | NP_000423.2:p.Gly87Ala |