Linked Data
ClinVar Variation Id:
554430
ClinVar RCV Id:
RCV000670061
dbSNP Id:
rs1555558914
gnomAD v4:
17-42900923-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42900923C>G , CM000679.2:g.42900923C>G | GRCh38 |
| NC_000017.10:g.41052940C>G , CM000679.1:g.41052940C>G | GRCh37 |
| NC_000017.9:g.38306466C>G | NCBI36 |
| NG_011808.1:g.5126C>G , LRG_147:g.5126C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.47C>G MANE Select | ENSP00000253801.1:p.Thr16Arg | |
| ENST00000253801.6:c.47C>G | ENSP00000253801.1:p.Thr16Arg | |
| ENST00000585489.1:c.47C>G | ENSP00000466202.1:p.Thr16Arg | |
| ENST00000588481.1:n.112C>G | ||
| ENST00000592383.5:c.47C>G | ENSP00000465958.1:p.Thr16Arg | |
| NM_000151.3:c.47C>G | NP_000142.2:p.Thr16Arg | |
| NM_001270397.1:c.47C>G | NP_001257326.1:p.Thr16Arg | |
| NM_000151.4:c.47C>G MANE Select | NP_000142.2:p.Thr16Arg | |
| NM_001270397.2:c.47C>G | NP_001257326.1:p.Thr16Arg |