Revel Score:
ENST00000330883
0.959
ENST00000392968
0.959
ENST00000262186 (MANE Select)
0.959
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948938T>C , CM000669.2:g.150948938T>C | GRCh38 |
| NC_000007.13:g.150646026T>C , CM000669.1:g.150646026T>C | GRCh37 |
| NC_000007.12:g.150276959T>C | NCBI36 |
| NG_008916.1:g.33989A>G , LRG_288:g.33989A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3343A>G | ||
| ENST00000262186.10:c.2510A>G MANE Select | ENSP00000262186.5:p.Asp837Gly | |
| ENST00000330883.9:c.1490A>G | ENSP00000328531.4:p.Asp497Gly | |
| ENST00000262186.9:c.2510A>G | ENSP00000262186.5:p.Asp837Gly | |
| ENST00000330883.8:c.1490A>G | ENSP00000328531.4:p.Asp497Gly | |
| NM_000238.3:c.2510A>G , LRG_288t1:c.2510A>G | NP_000229.1:p.Asp837Gly | |
| NM_172057.2:c.1490A>G , LRG_288t3:c.1490A>G | NP_742054.1:p.Asp497Gly | |
| XM_011516185.1:c.2210A>G | XP_011514487.1:p.Asp737Gly | |
| XM_011516186.1:c.2510A>G | XP_011514488.1:p.Asp837Gly | |
| XM_011516185.2:c.2210A>G | XP_011514487.1:p.Asp737Gly | |
| XM_011516186.3:c.2510A>G | XP_011514488.1:p.Asp837Gly | |
| XM_017012195.1:c.2360A>G | XP_016867684.1:p.Asp787Gly | |
| XM_017012196.1:c.2333A>G | XP_016867685.1:p.Asp778Gly | |
| NM_000238.4:c.2510A>G MANE Select | NP_000229.1:p.Asp837Gly | |
| NM_172057.3:c.1490A>G | NP_742054.1:p.Asp497Gly |