Linked Data
ClinVar Variation Id:
1591486
dbSNP Id:
rs2122623838
gnomAD v4:
20-10658694-A-G
MyVariant Identifiers:
chr20:g.10639342A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658694A>G , CM000682.2:g.10658694A>G | GRCh38 |
| NC_000020.10:g.10639342A>G , CM000682.1:g.10639342A>G | GRCh37 |
| NC_000020.9:g.10587342A>G | NCBI36 |
| NG_007496.1:g.20353T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.468T>C MANE Select | ENSP00000254958.4:p.Ser156= | |
| ENST00000254958.9:c.468T>C | ENSP00000254958.4:p.Ser156= | |
| ENST00000423891.6:n.334T>C | ||
| NM_000214.2:c.468T>C | NP_000205.1:p.Ser156= | |
| NM_000214.3:c.468T>C MANE Select | NP_000205.1:p.Ser156= |