Linked Data
ClinVar Variation Id:
1646081
ClinVar RCV Id:
RCV002150964
dbSNP Id:
rs540597078
gnomAD v2:
8-87680353-C-T
gnomAD v3:
8-86668125-C-T
gnomAD v4:
8-86668125-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86668125C>T , CM000670.2:g.86668125C>T | GRCh38 |
| NC_000008.10:g.87680353C>T , CM000670.1:g.87680353C>T | GRCh37 |
| NC_000008.9:g.87749469C>T | NCBI36 |
| NG_016980.1:g.80551G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.537G>A MANE Select | ENSP00000316605.5:p.Lys179= | |
| ENST00000681746.1:c.537G>A | ENSP00000505959.1:p.Lys179= | |
| ENST00000320005.5:c.537G>A | ENSP00000316605.5:p.Lys179= | |
| NM_019098.4:c.537G>A | NP_061971.3:p.Lys179= | |
| XM_011517138.1:c.123G>A | XP_011515440.1:p.Lys41= | |
| XM_011517138.2:c.123G>A | XP_011515440.1:p.Lys41= | |
| NM_019098.5:c.537G>A MANE Select | NP_061971.3:p.Lys179= |