Linked Data
dbSNP Id:
rs759470441
ExAC:
12:65640086 A / G
gnomAD v2:
12-65640086-A-G
gnomAD v4:
12-65246306-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65246306A>G , CM000674.2:g.65246306A>G | GRCh38 |
| NC_000012.11:g.65640086A>G , CM000674.1:g.65640086A>G | GRCh37 |
| NC_000012.10:g.63926353A>G | NCBI36 |
| NG_016210.1:g.81736A>G | |
| NG_016210.2:g.81736A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2717A>G MANE Select | ENSP00000308369.2:p.Asn906Ser | |
| ENST00000308330.2:c.2717A>G | ENSP00000308369.2:p.Asn906Ser | |
| ENST00000539442.1:n.699A>G | ||
| ENST00000545026.1:n.535A>G | ||
| NM_001167614.1:c.2714A>G | NP_001161086.1:p.Asn905Ser | |
| NM_014319.4:c.2717A>G | NP_055134.2:p.Asn906Ser | |
| NM_014319.5:c.2717A>G MANE Select | NP_055134.2:p.Asn906Ser | |
| NM_001167614.2:c.2714A>G | NP_001161086.1:p.Asn905Ser |