Linked Data
ClinVar Variation Id:
526487
dbSNP Id:
rs746155183
ExAC:
16:3656605 T / C
gnomAD v2:
16-3656605-T-C
gnomAD v3:
16-3606604-T-C
gnomAD v4:
16-3606604-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3606604T>C , CM000678.2:g.3606604T>C | GRCh38 |
| NC_000016.9:g.3656605T>C , CM000678.1:g.3656605T>C | GRCh37 |
| NC_000016.8:g.3596606T>C | NCBI36 |
| NG_028123.1:g.9981A>G , LRG_503:g.9981A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294008.4:c.630A>G MANE Select | ENSP00000294008.3:p.Leu210= | |
| ENST00000294008.3:c.630A>G | ENSP00000294008.3:p.Leu210= | |
| ENST00000466154.5:n.925A>G | ||
| ENST00000486524.1:n.1258A>G | ||
| NM_032444.2:c.630A>G , LRG_503t1:c.630A>G | NP_115820.2:p.Leu210= | |
| XM_011522715.1:c.630A>G | XP_011521017.1:p.Leu210= | |
| NM_032444.3:c.630A>G | NP_115820.2:p.Leu210= | |
| XM_011522715.3:c.630A>G | XP_011521017.1:p.Leu210= | |
| XM_024450471.1:c.630A>G | XP_024306239.1:p.Leu210= | |
| NM_032444.4:c.630A>G MANE Select | NP_115820.2:p.Leu210= |