Linked Data
dbSNP Id:
rs764652287
ExAC:
3:38793957 C / T
gnomAD v2:
3-38793957-C-T
gnomAD v4:
3-38752466-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38752466C>T , CM000665.2:g.38752466C>T | GRCh38 |
| NC_000003.11:g.38793957C>T , CM000665.1:g.38793957C>T | GRCh37 |
| NC_000003.10:g.38768961C>T | NCBI36 |
| NG_031891.2:g.46545G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.1508G>A MANE Select | ENSP00000390600.2:p.Ser503Asn | |
| ENST00000643924.1:c.1508G>A | ENSP00000495595.1:p.Ser503Asn | |
| ENST00000655275.1:c.1535G>A | ENSP00000499510.1:p.Ser512Asn | |
| ENST00000449082.2:c.1508G>A | ENSP00000390600.2:p.Ser503Asn | |
| NM_001293306.2:c.1508G>A | NP_001280235.2:p.Ser503Asn | |
| NM_001293307.2:c.1462-2282G>A | NP_001280236.2:n.1462-2282G>A | |
| NM_006514.3:c.1508G>A | NP_006505.3:p.Ser503Asn | |
| XM_005265371.2:c.1517G>A | XP_005265428.1:p.Ser506Asn | |
| XM_011533993.1:c.1517G>A | XP_011532295.1:p.Ser506Asn | |
| XM_011533994.1:c.1471-2282G>A | XP_011532296.1:n.1471-2282G>A | |
| XM_005265371.3:c.1517G>A | XP_005265428.1:p.Ser506Asn | |
| XM_011533993.2:c.1517G>A | XP_011532295.1:p.Ser506Asn | |
| XM_011533994.2:c.1471-2282G>A | XP_011532296.1:n.1471-2282G>A | |
| NM_006514.4:c.1508G>A MANE Select | NP_006505.4:p.Ser503Asn |