Linked Data
ClinVar Variation Id:
240168
ClinVar RCV Id:
RCV000231919
dbSNP Id:
rs757396406
ExAC:
15:73615287 G / A
gnomAD v2:
15-73615287-G-A
gnomAD v3:
15-73322946-G-A
gnomAD v4:
15-73322946-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322946G>A , CM000677.2:g.73322946G>A | GRCh38 |
| NC_000015.9:g.73615287G>A , CM000677.1:g.73615287G>A | GRCh37 |
| NC_000015.8:g.71402340G>A | NCBI36 |
| NG_009063.1:g.51319C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.3147C>T MANE Select | ENSP00000261917.3:p.His1049= | |
| ENST00000261917.3:c.3147C>T | ENSP00000261917.3:p.His1049= | |
| NM_005477.2:c.3147C>T | NP_005468.1:p.His1049= | |
| XM_011521148.1:c.1929C>T | XP_011519450.1:p.His643= | |
| XM_011521148.2:c.1929C>T | XP_011519450.1:p.His643= | |
| NM_005477.3:c.3147C>T MANE Select | NP_005468.1:p.His1049= |