Linked Data
ClinVar Variation Id:
1474
ClinVar RCV Id:
RCV000001539
dbSNP Id:
rs118204115
PubMed:
PMID:8262523
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092518C>A , CM000673.2:g.119092518C>A | GRCh38 |
| NC_000011.9:g.118963228C>A , CM000673.1:g.118963228C>A | GRCh37 |
| NC_000011.8:g.118468438C>A | NCBI36 |
| NG_008093.1:g.12642C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686218.1:c.601C>A | ENSP00000509288.1:p.His201Asn | |
| ENST00000691144.1:n.2747C>A | ||
| ENST00000691249.1:n.1590C>A | ||
| ENST00000442944.7:c.748C>A | ENSP00000392041.3:p.His250Asn | |
| ENST00000640813.1:c.*3C>A | ENSP00000491061.1:n.*3C>A | |
| ENST00000648026.1:c.660C>A | ENSP00000498044.1:n.660C>A | |
| ENST00000648374.1:c.715C>A | ENSP00000497255.1:p.His239Asn | |
| ENST00000649823.1:n.1223C>A | ||
| ENST00000650101.1:c.697C>A | ENSP00000496970.1:p.His233Asn | |
| ENST00000650307.1:n.1592C>A | ||
| ENST00000652429.1:c.766C>A MANE Select | ENSP00000498786.1:p.His256Asn | |
| ENST00000278715.7:c.766C>A | ENSP00000278715.3:p.His256Asn | |
| ENST00000392841.1:c.715C>A | ENSP00000376584.1:p.His239Asn | |
| ENST00000442944.6:c.715C>A | ENSP00000392041.2:p.His239Asn | |
| ENST00000537841.5:c.715C>A | ENSP00000444730.1:p.His239Asn | |
| ENST00000542044.5:n.1211C>A | ||
| ENST00000542729.5:c.601-240C>A | ENSP00000443058.1:n.601-240C>A | |
| ENST00000543090.5:c.673C>A | ENSP00000445429.1:p.His225Asn | |
| ENST00000543543.5:n.1241C>A | ||
| ENST00000544182.1:n.981C>A | ||
| ENST00000544387.5:c.652-240C>A | ENSP00000438424.1:n.652-240C>A | |
| ENST00000546226.5:n.1294C>A | ||
| NM_000190.3:c.766C>A | NP_000181.2:p.His256Asn | |
| NM_001024382.1:c.715C>A | NP_001019553.1:p.His239Asn | |
| NM_001258208.1:c.652-240C>A | NP_001245137.1:n.652-240C>A | |
| NM_001258209.1:c.601-240C>A | NP_001245138.1:n.601-240C>A | |
| XM_005271531.1:c.715C>A | XP_005271588.1:p.His239Asn | |
| XM_005271532.1:c.715C>A | XP_005271589.1:p.His239Asn | |
| XM_005271533.2:c.712C>A | XP_005271590.1:p.His238Asn | |
| XM_011542796.1:c.601C>A | XP_011541098.1:p.His201Asn | |
| NM_000190.4:c.766C>A MANE Select | NP_000181.2:p.His256Asn | |
| NM_001024382.2:c.715C>A | NP_001019553.1:p.His239Asn | |
| XM_005271533.3:c.712C>A | XP_005271590.1:p.His238Asn | |
| XM_017017629.1:c.715C>A | XP_016873118.1:p.His239Asn | |
| XM_024448460.1:c.598-240C>A | XP_024304228.1:n.598-240C>A | |
| NM_001258208.2:c.652-240C>A | NP_001245137.1:n.652-240C>A | |
| NM_001258209.2:c.601-240C>A | NP_001245138.1:n.601-240C>A |