Linked Data
ClinVar Variation Id:
310061
dbSNP Id:
rs41276736
ExAC:
12:6125716 G / A
gnomAD v2:
12-6125716-G-A
gnomAD v3:
12-6016550-G-A
gnomAD v4:
12-6016550-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6016550G>A , CM000674.2:g.6016550G>A | GRCh38 |
| NC_000012.11:g.6125716G>A , CM000674.1:g.6125716G>A | GRCh37 |
| NC_000012.10:g.5995977G>A | NCBI36 |
| NG_009072.1:g.113121C>T | |
| NG_009072.2:g.113121C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.5277C>T MANE Select | ENSP00000261405.5:p.Asp1759= | |
| ENST00000261405.9:c.5277C>T | ENSP00000261405.5:p.Asp1759= | |
| ENST00000538635.5:n.421-22616C>T | ||
| NM_000552.3:c.5277C>T | NP_000543.2:p.Asp1759= | |
| NM_000552.4:c.5277C>T | NP_000543.2:p.Asp1759= | |
| NM_000552.5:c.5277C>T MANE Select | NP_000543.3:p.Asp1759= |