Linked Data
ClinVar Variation Id:
301743
ClinVar RCV Id:
RCV000264875
dbSNP Id:
rs375868871
gnomAD v2:
10-97365690-G-A
gnomAD v3:
10-95605933-G-A
gnomAD v4:
10-95605933-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95605933G>A , CM000672.2:g.95605933G>A | GRCh38 |
| NC_000010.10:g.97365690G>A , CM000672.1:g.97365690G>A | GRCh37 |
| NC_000010.9:g.97355680G>A | NCBI36 |
| NG_012258.1:g.55878C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371224.6:c.*829C>T | ENSP00000360268.2:n.*829C>T | |
| NM_001017423.1:c.*829C>T | NP_001017423.1:n.*829C>T | |
| NM_002860.3:c.*829C>T | NP_002851.2:n.*829C>T | |
| NM_001323412.1:c.*829C>T | NP_001310341.1:n.*829C>T | |
| NM_001323413.1:c.*829C>T | NP_001310342.1:n.*829C>T | |
| NM_001323414.1:c.*829C>T | NP_001310343.1:n.*829C>T | |
| NM_001323415.1:c.*829C>T | NP_001310344.1:n.*829C>T | |
| NM_001323416.1:c.*829C>T | NP_001310345.1:n.*829C>T | |
| NM_001323417.1:c.*829C>T | NP_001310346.1:n.*829C>T | |
| NM_001323418.1:c.*829C>T | NP_001310347.1:n.*829C>T | |
| NM_001323419.1:c.*829C>T | NP_001310348.1:n.*829C>T |