Linked Data
ClinVar Variation Id:
768195
ClinVar RCV Id:
RCV000947062
dbSNP Id:
rs28392728
ExAC:
7:112724147 G / A
gnomAD v2:
7-112724147-G-A
gnomAD v3:
7-113084092-G-A
gnomAD v4:
7-113084092-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.113084092G>A , CM000669.2:g.113084092G>A | GRCh38 |
| NC_000007.13:g.112724147G>A , CM000669.1:g.112724147G>A | GRCh37 |
| NC_000007.12:g.112511383G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424100.2:c.630C>T MANE Select | ENSP00000396763.1:p.His210= | |
| ENST00000449591.2:c.630C>T | ENSP00000401178.1:p.His210= | |
| ENST00000297146.7:c.630C>T | ENSP00000297146.2:p.His210= | |
| ENST00000424100.1:c.630C>T | ENSP00000396763.1:p.His210= | |
| ENST00000449591.1:c.630C>T | ENSP00000401178.1:p.His210= | |
| ENST00000610164.1:c.630C>T | ENSP00000476863.1:p.His210= | |
| NM_001146265.1:c.630C>T | NP_001139737.1:p.His210= | |
| NM_001146266.1:c.630C>T | NP_001139738.1:p.His210= | |
| NM_001146267.1:c.630C>T | NP_001139739.1:p.His210= | |
| NM_018970.6:c.630C>T | NP_061843.3:p.His210= | |
| XM_005250451.2:c.630C>T | XP_005250508.1:p.His210= | |
| XM_017012352.2:c.630C>T | XP_016867841.1:p.His210= | |
| NM_001146265.2:c.630C>T | NP_001139737.1:p.His210= | |
| NM_001146266.2:c.630C>T | NP_001139738.1:p.His210= | |
| NM_001146267.2:c.630C>T MANE Select | NP_001139739.1:p.His210= | |
| NM_018970.7:c.630C>T | NP_061843.3:p.His210= |