Linked Data
ClinVar Variation Id:
2394658
ClinVar RCV Id:
RCV004226198
dbSNP Id:
rs377259454
ExAC:
21:38092141 G / A
gnomAD v2:
21-38092141-G-A
gnomAD v3:
21-36719840-G-A
gnomAD v4:
21-36719840-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36719840G>A , CM000683.2:g.36719840G>A | GRCh38 |
| NC_000021.8:g.38092141G>A , CM000683.1:g.38092141G>A | GRCh37 |
| NC_000021.7:g.37014011G>A | NCBI36 |
| NG_029519.1:g.25151G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290399.11:c.368G>A MANE Select | ENSP00000290399.6:p.Ser123Asn | |
| ENST00000290399.10:c.368G>A | ENSP00000290399.6:p.Ser123Asn | |
| ENST00000431229.1:c.180G>A | ||
| ENST00000481185.1:n.981G>A | ||
| ENST00000483178.2:c.77G>A | ENSP00000476273.1:p.Ser26Asn | |
| NM_005069.4:c.368G>A | NP_005060.1:p.Ser123Asn | |
| NM_009586.3:c.368G>A | NP_033664.2:p.Ser123Asn | |
| XM_011529694.1:c.65G>A | XP_011527996.1:p.Ser22Asn | |
| XM_011529695.1:c.-38G>A | XP_011527997.1:n.-38G>A | |
| NM_005069.5:c.368G>A | NP_005060.1:p.Ser123Asn | |
| NM_009586.4:c.368G>A | NP_033664.2:p.Ser123Asn | |
| XM_017028442.2:c.368G>A | XP_016883931.1:p.Ser123Asn | |
| XR_001754891.2:n.998G>A | ||
| NM_005069.6:c.368G>A MANE Select | NP_005060.1:p.Ser123Asn | |
| NM_009586.5:c.368G>A | NP_033664.2:p.Ser123Asn |