Linked Data
dbSNP Id:
rs753252261
ExAC:
20:10639283 A / G
gnomAD v2:
20-10639283-A-G
gnomAD v4:
20-10658635-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658635A>G , CM000682.2:g.10658635A>G | GRCh38 |
| NC_000020.10:g.10639283A>G , CM000682.1:g.10639283A>G | GRCh37 |
| NC_000020.9:g.10587283A>G | NCBI36 |
| NG_007496.1:g.20412T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.527T>C MANE Select | ENSP00000254958.4:p.Val176Ala | |
| ENST00000254958.9:c.527T>C | ENSP00000254958.4:p.Val176Ala | |
| ENST00000423891.6:n.393T>C | ||
| NM_000214.2:c.527T>C | NP_000205.1:p.Val176Ala | |
| NM_000214.3:c.527T>C MANE Select | NP_000205.1:p.Val176Ala |