Linked Data
ClinVar Variation Id:
1949641
ClinVar RCV Id:
RCV002659510
dbSNP Id:
rs1418925476
gnomAD v3:
17-42909325-T-C
gnomAD v4:
17-42909325-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909325T>C , CM000679.2:g.42909325T>C | GRCh38 |
| NC_000017.10:g.41061342T>C , CM000679.1:g.41061342T>C | GRCh37 |
| NC_000017.9:g.38314868T>C | NCBI36 |
| NG_011808.1:g.13528T>C , LRG_147:g.13528T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.469T>C MANE Select | ENSP00000253801.1:p.Leu157= | |
| ENST00000253801.6:c.469T>C | ENSP00000253801.1:p.Leu157= | |
| ENST00000585489.1:c.447-1590T>C | ENSP00000466202.1:n.447-1590T>C | |
| ENST00000592383.5:c.392T>C | ENSP00000465958.1:p.Val131Ala | |
| NM_000151.3:c.469T>C | NP_000142.2:p.Leu157= | |
| NM_001270397.1:c.392T>C | NP_001257326.1:p.Val131Ala | |
| NM_000151.4:c.469T>C MANE Select | NP_000142.2:p.Leu157= | |
| NM_001270397.2:c.392T>C | NP_001257326.1:p.Val131Ala |