Linked Data
ClinVar Variation Id:
206015
dbSNP Id:
rs774026720
ExAC:
7:66103260 G / A
gnomAD v2:
7-66103260-G-A
gnomAD v3:
7-66638273-G-A
gnomAD v4:
7-66638273-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66638273G>A , CM000669.2:g.66638273G>A | GRCh38 |
| NC_000007.13:g.66103260G>A , CM000669.1:g.66103260G>A | GRCh37 |
| NC_000007.12:g.65740695G>A | NCBI36 |
| NG_028110.1:g.14393G>A | |
| NG_028110.2:g.14393G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275532.8:c.335G>A | ENSP00000275532.4:p.Arg112His | |
| ENST00000449064.6:c.313G>A | ||
| ENST00000503687.2:c.165G>A | ENSP00000421074.1:p.Ala55= | |
| ENST00000638524.1:c.160G>A | ||
| ENST00000638540.1:c.139G>A | ||
| ENST00000639828.2:c.335G>A MANE Select | ENSP00000492240.1:p.Arg112His | |
| ENST00000639879.1:c.335G>A | ENSP00000492161.1:p.Arg112His | |
| ENST00000640234.1:c.205G>A | ||
| ENST00000640385.1:c.335G>A | ENSP00000491193.1:p.Arg112His | |
| ENST00000640851.1:c.335G>A | ENSP00000492577.1:p.Arg112His | |
| ENST00000275532.7:c.335G>A | ENSP00000275532.3:p.Arg112His | |
| ENST00000443322.1:c.335G>A | ENSP00000411624.1:p.Arg112His | |
| ENST00000449064.5:c.165G>A | ENSP00000388463.1:p.Ala55= | |
| ENST00000503687.1:c.165G>A | ENSP00000421074.1:p.Ala55= | |
| NM_001167961.2:c.335G>A | NP_001161433.1:p.Arg112His | |
| NM_153033.4:c.335G>A | NP_694578.1:p.Arg112His | |
| NM_153033.5:c.335G>A MANE Select | NP_694578.1:p.Arg112His |