Linked Data
dbSNP Id:
rs1935098717
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564805C>T , CM000684.2:g.36564805C>T | GRCh38 |
| NC_000022.10:g.36960852C>T , CM000684.1:g.36960852C>T | GRCh37 |
| NC_000022.9:g.35290798C>T | NCBI36 |
| NG_031861.1:g.142839G>A | |
| NG_031861.2:g.143054G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.518G>A MANE Select | ENSP00000300105.6:p.Ser173Asn | |
| ENST00000300105.6:c.518G>A | ENSP00000300105.6:p.Ser173Asn | |
| NM_006078.3:c.518G>A | NP_006069.1:p.Ser173Asn | |
| NM_006078.4:c.518G>A | NP_006069.1:p.Ser173Asn | |
| XM_017028531.2:c.260G>A | XP_016884020.1:p.Ser87Asn | |
| NM_001379051.1:c.449G>A | NP_001365980.1:p.Ser150Asn | |
| NM_006078.5:c.518G>A MANE Select | NP_006069.1:p.Ser173Asn | |
| NR_166440.1:n.1884G>A |