Linked Data
dbSNP Id:
rs770384822
ExAC:
10:96708995 A / G
gnomAD v2:
10-96708995-A-G
gnomAD v4:
10-94949238-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94949238A>G , CM000672.2:g.94949238A>G | GRCh38 |
| NC_000010.10:g.96708995A>G , CM000672.1:g.96708995A>G | GRCh37 |
| NC_000010.9:g.96698985A>G | NCBI36 |
| NG_008385.1:g.15581A>G | |
| NG_008385.2:g.16081A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.773A>G MANE Select | ENSP00000260682.6:p.Asn258Ser | |
| ENST00000643112.1:c.773A>G | ENSP00000496202.1:p.Asn258Ser | |
| ENST00000260682.6:c.773A>G | ENSP00000260682.6:p.Asn258Ser | |
| ENST00000473496.1:n.544A>G | ||
| NM_000771.3:c.773A>G | NP_000762.2:p.Asn258Ser | |
| NM_000771.4:c.773A>G MANE Select | NP_000762.2:p.Asn258Ser |