Revel Score:
ENST00000392968
0.961
ENST00000262186 (MANE Select)
0.961
ENST00000430723
0.961
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150959722A>G , CM000669.2:g.150959722A>G | GRCh38 |
| NC_000007.13:g.150656810A>G , CM000669.1:g.150656810A>G | GRCh37 |
| NC_000007.12:g.150287743A>G | NCBI36 |
| NG_008916.1:g.23205T>C , LRG_288:g.23205T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1155T>C | ||
| ENST00000262186.10:c.322T>C MANE Select | ENSP00000262186.5:p.Cys108Arg | |
| ENST00000262186.9:c.322T>C | ENSP00000262186.5:p.Cys108Arg | |
| ENST00000430723.4:c.145T>C | ENSP00000387657.4:p.Cys49Arg | |
| ENST00000532957.5:n.545T>C | ||
| NM_000238.3:c.322T>C , LRG_288t1:c.322T>C | NP_000229.1:p.Cys108Arg | |
| NM_172056.2:c.322T>C , LRG_288t2:c.322T>C | NP_742053.1:p.Cys108Arg | |
| XM_011516185.1:c.22T>C | XP_011514487.1:p.Cys8Arg | |
| XM_011516186.1:c.322T>C | XP_011514488.1:p.Cys108Arg | |
| XM_011516185.2:c.22T>C | XP_011514487.1:p.Cys8Arg | |
| XM_011516186.3:c.322T>C | XP_011514488.1:p.Cys108Arg | |
| XM_017012195.1:c.172T>C | XP_016867684.1:p.Cys58Arg | |
| XM_017012196.1:c.145T>C | XP_016867685.1:p.Cys49Arg | |
| NM_000238.4:c.322T>C MANE Select | NP_000229.1:p.Cys108Arg |