Linked Data
gnomAD v4:
11-66560724-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66560724G>A , CM000673.2:g.66560724G>A | GRCh38 |
| NC_000011.9:g.66328195G>A , CM000673.1:g.66328195G>A | GRCh37 |
| NC_000011.8:g.66084771G>A | NCBI36 |
| NG_013304.2:g.18805G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513398.2:c.1829G>A MANE Select | ENSP00000426797.1:p.Ser610Asn | |
| ENST00000502692.5:c.1958G>A | ENSP00000422007.1:p.Ser653Asn | |
| ENST00000513398.1:c.1829G>A | ENSP00000426797.1:p.Ser610Asn | |
| NM_001104.3:c.1829G>A | NP_001095.2:p.Ser610Asn | |
| NM_001258371.2:c.1958G>A | NP_001245300.2:p.Ser653Asn | |
| NM_001104.4:c.1829G>A MANE Select | NP_001095.2:p.Ser610Asn | |
| NM_001258371.3:c.1958G>A | NP_001245300.2:p.Ser653Asn |