Linked Data
ClinVar Variation Id:
289225
ClinVar RCV Id:
RCV000273338
dbSNP Id:
rs150295615
ExAC:
7:42187829 G / A
gnomAD v2:
7-42187829-G-A
gnomAD v3:
7-42148230-G-A
gnomAD v4:
7-42148230-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.42148230G>A , CM000669.2:g.42148230G>A | GRCh38 |
| NC_000007.13:g.42187829G>A , CM000669.1:g.42187829G>A | GRCh37 |
| NC_000007.12:g.42154354G>A | NCBI36 |
| NG_008434.1:g.93790C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395925.8:c.363C>T MANE Select | ENSP00000379258.3:p.His121= | |
| ENST00000642432.1:c.186C>T | ENSP00000495498.1:p.His62= | |
| ENST00000643264.1:c.186C>T | ENSP00000495207.1:p.His62= | |
| ENST00000647255.1:c.186C>T | ENSP00000495745.1:p.His62= | |
| ENST00000677288.1:c.186C>T | ENSP00000503986.1:p.His62= | |
| ENST00000677605.1:c.363C>T | ENSP00000503743.1:p.His121= | |
| ENST00000678429.1:c.363C>T | ENSP00000502957.1:p.His121= | |
| ENST00000395925.7:c.363C>T | ENSP00000379258.3:p.His121= | |
| ENST00000448703.5:c.363C>T | ENSP00000406135.1:p.His121= | |
| ENST00000479210.1:n.340C>T | ||
| NM_000168.5:c.363C>T | NP_000159.3:p.His121= | |
| XM_005249703.1:c.363C>T | XP_005249760.1:p.His121= | |
| XM_005249704.2:c.363C>T | XP_005249761.1:p.His121= | |
| XM_011515272.1:c.363C>T | XP_011513574.1:p.His121= | |
| XM_011515273.1:c.363C>T | XP_011513575.1:p.His121= | |
| XM_011515274.1:c.186C>T | XP_011513576.1:p.His62= | |
| XM_011515274.2:c.186C>T | XP_011513576.1:p.His62= | |
| XM_017011997.1:c.360C>T | XP_016867486.1:p.His120= | |
| NM_000168.6:c.363C>T MANE Select | NP_000159.3:p.His121= |