Linked Data
dbSNP Id:
rs146215492
gnomAD v2:
12-65640034-A-G
gnomAD v3:
12-65246254-A-G
gnomAD v4:
12-65246254-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65246254A>G , CM000674.2:g.65246254A>G | GRCh38 |
| NC_000012.11:g.65640034A>G , CM000674.1:g.65640034A>G | GRCh37 |
| NC_000012.10:g.63926301A>G | NCBI36 |
| NG_016210.1:g.81684A>G | |
| NG_016210.2:g.81684A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2665A>G MANE Select | ENSP00000308369.2:p.Asn889Asp | |
| ENST00000308330.2:c.2665A>G | ENSP00000308369.2:p.Asn889Asp | |
| ENST00000539442.1:n.647A>G | ||
| ENST00000544506.1:n.385A>G | ||
| ENST00000545026.1:n.483A>G | ||
| NM_001167614.1:c.2662A>G | NP_001161086.1:p.Asn888Asp | |
| NM_014319.4:c.2665A>G | NP_055134.2:p.Asn889Asp | |
| NM_014319.5:c.2665A>G MANE Select | NP_055134.2:p.Asn889Asp | |
| NM_001167614.2:c.2662A>G | NP_001161086.1:p.Asn888Asp |