ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000218099 (MANE Select)
0.971
ENST00000394090
0.971
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139561872G>C , CM000685.2:g.139561872G>C | GRCh38 |
| NC_000023.10:g.138644031G>C , CM000685.1:g.138644031G>C | GRCh37 |
| NC_000023.9:g.138471697G>C | NCBI36 |
| NG_007994.1:g.36137G>C , LRG_556:g.36137G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.1187G>C MANE Select | ENSP00000218099.2:p.Cys396Ser | |
| ENST00000643157.1:n.1723+131G>C | ||
| ENST00000218099.6:c.1187G>C | ENSP00000218099.2:p.Cys396Ser | |
| ENST00000394090.2:c.1073G>C | ENSP00000377650.2:p.Cys358Ser | |
| NM_000133.3:c.1187G>C , LRG_556t1:c.1187G>C | NP_000124.1:p.Cys396Ser | |
| NM_001313913.1:c.1073G>C | NP_001300842.1:p.Cys358Ser | |
| XM_005262397.3:c.1058G>C | XP_005262454.1:p.Cys353Ser | |
| XM_005262397.4:c.1058G>C | XP_005262454.1:p.Cys353Ser | |
| NM_000133.4:c.1187G>C MANE Select | NP_000124.1:p.Cys396Ser | |
| NM_001313913.2:c.1073G>C | NP_001300842.1:p.Cys358Ser |