Linked Data
ClinVar Variation Id:
2662465
ClinVar RCV Id:
RCV003443960
dbSNP Id:
rs369215519
ExAC:
16:3777853 G / T
gnomAD v2:
16-3777853-G-T
gnomAD v4:
16-3727852-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3727852G>T , CM000678.2:g.3727852G>T | GRCh38 |
| NC_000016.9:g.3777853G>T , CM000678.1:g.3777853G>T | GRCh37 |
| NC_000016.8:g.3717854G>T | NCBI36 |
| NG_009873.1:g.157269C>A | |
| NG_009873.2:g.157862C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7195C>A MANE Select | ENSP00000262367.5:p.His2399Asn | |
| ENST00000262367.9:c.7195C>A | ENSP00000262367.5:p.His2399Asn | |
| ENST00000382070.7:c.7081C>A | ENSP00000371502.3:p.His2361Asn | |
| NM_001079846.1:c.7081C>A | NP_001073315.1:p.His2361Asn | |
| NM_004380.2:c.7195C>A | NP_004371.2:p.His2399Asn | |
| XM_005255124.3:c.7150C>A | XP_005255181.1:p.His2384Asn | |
| XM_005255125.3:c.6778C>A | XP_005255182.1:p.His2260Asn | |
| XM_006720848.2:c.6934C>A | XP_006720911.1:p.His2312Asn | |
| XM_011522380.1:c.7141C>A | XP_011520682.1:p.His2381Asn | |
| XM_011522381.1:c.6442C>A | XP_011520683.1:p.His2148Asn | |
| XM_005255124.4:c.7150C>A | XP_005255181.1:p.His2384Asn | |
| XM_005255125.4:c.6778C>A | XP_005255182.1:p.His2260Asn | |
| XM_006720848.3:c.6934C>A | XP_006720911.1:p.His2312Asn | |
| XM_011522381.2:c.6442C>A | XP_011520683.1:p.His2148Asn | |
| XM_017022944.1:c.7189C>A | XP_016878433.1:p.His2397Asn | |
| NM_004380.3:c.7195C>A MANE Select | NP_004371.2:p.His2399Asn |