Linked Data
ClinVar Variation Id:
43496
ClinVar RCV Id:
RCV000036428
RCV000169222
RCV000424441
RCV000515653
RCV000506765
RCV001291345
RCV001814024
RCV002496559
dbSNP Id:
rs111033305
ExAC:
7:107330645 G / A
gnomAD v2:
7-107330645-G-A
gnomAD v3:
7-107690200-G-A
gnomAD v4:
7-107690200-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107690200G>A , CM000669.2:g.107690200G>A | GRCh38 |
| NC_000007.13:g.107330645G>A , CM000669.1:g.107330645G>A | GRCh37 |
| NC_000007.12:g.107117881G>A | NCBI36 |
| NG_008489.1:g.34566G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1226G>A MANE Select | ENSP00000494017.1:p.Arg409His | |
| ENST00000265715.7:c.1226G>A | ENSP00000265715.3:p.Arg409His | |
| NM_000441.1:c.1226G>A | NP_000432.1:p.Arg409His | |
| XM_005250425.1:c.1226G>A | XP_005250482.1:p.Arg409His | |
| XM_006716025.2:c.1226G>A | XP_006716088.1:p.Arg409His | |
| XM_005250425.2:c.1226G>A | XP_005250482.1:p.Arg409His | |
| XM_006716025.3:c.1226G>A | XP_006716088.1:p.Arg409His | |
| XM_017012318.1:c.1226G>A | XP_016867807.1:p.Arg409His | |
| NM_000441.2:c.1226G>A MANE Select | NP_000432.1:p.Arg409His |