Linked Data
ClinVar Variation Id:
2850110
ClinVar RCV Id:
RCV003625834
gnomAD v4:
17-42911045-T-C
MyVariant Identifiers:
chr17:g.41063062T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911045T>C , CM000679.2:g.42911045T>C | GRCh38 |
| NC_000017.10:g.41063062T>C , CM000679.1:g.41063062T>C | GRCh37 |
| NC_000017.9:g.38316588T>C | NCBI36 |
| NG_011808.1:g.15248T>C , LRG_147:g.15248T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.693T>C MANE Select | ENSP00000253801.1:p.Gly231= | |
| ENST00000253801.6:c.693T>C | ENSP00000253801.1:p.Gly231= | |
| ENST00000585489.1:c.*85T>C | ENSP00000466202.1:n.*85T>C | |
| ENST00000592383.5:c.*85T>C | ENSP00000465958.1:n.*85T>C | |
| NM_000151.3:c.693T>C | NP_000142.2:p.Gly231= | |
| NM_001270397.1:c.*85T>C | NP_001257326.1:n.*85T>C | |
| NM_000151.4:c.693T>C MANE Select | NP_000142.2:p.Gly231= | |
| NM_001270397.2:c.*85T>C | NP_001257326.1:n.*85T>C |