Linked Data
dbSNP Id:
rs765542489
ExAC:
12:6125394 A / G
gnomAD v2:
12-6125394-A-G
gnomAD v4:
12-6016228-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6016228A>G , CM000674.2:g.6016228A>G | GRCh38 |
| NC_000012.11:g.6125394A>G , CM000674.1:g.6125394A>G | GRCh37 |
| NC_000012.10:g.5995655A>G | NCBI36 |
| NG_009072.1:g.113443T>C | |
| NG_009072.2:g.113443T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.5316T>C MANE Select | ENSP00000261405.5:p.Asp1772= | |
| ENST00000261405.9:c.5316T>C | ENSP00000261405.5:p.Asp1772= | |
| ENST00000538635.5:n.421-22294T>C | ||
| NM_000552.3:c.5316T>C | NP_000543.2:p.Asp1772= | |
| NM_000552.4:c.5316T>C | NP_000543.2:p.Asp1772= | |
| NM_000552.5:c.5316T>C MANE Select | NP_000543.3:p.Asp1772= |