Linked Data
ClinVar Variation Id:
2563091
dbSNP Id:
rs1182072704
gnomAD v2:
11-47365098-G-T
gnomAD v4:
11-47343547-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47343547G>T , CM000673.2:g.47343547G>T | GRCh38 |
| NC_000011.9:g.47365098G>T , CM000673.1:g.47365098G>T | GRCh37 |
| NC_000011.8:g.47321674G>T | NCBI36 |
| NG_007667.1:g.14156C>A , LRG_386:g.14156C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.1168C>A MANE Select | ENSP00000442795.1:p.His390Asn | |
| ENST00000256993.8:c.1168C>A | ENSP00000256993.5:p.His390Asn | |
| ENST00000399249.6:c.1168C>A | ENSP00000382193.2:p.His390Asn | |
| ENST00000544791.1:c.1168C>A | ENSP00000444259.1:p.His390Asn | |
| ENST00000545968.5:c.1168C>A | ENSP00000442795.1:p.His390Asn | |
| NM_000256.3:c.1168C>A , LRG_386t1:c.1168C>A MANE Select | NP_000247.2:p.His390Asn | |
| XM_011520117.1:c.1150C>A | XP_011518419.1:p.His384Asn | |
| XM_011520118.1:c.1168C>A | XP_011518420.1:p.His390Asn |