Linked Data
ClinVar Variation Id:
305714
ClinVar RCV Id:
RCV000347893
dbSNP Id:
rs886048583
gnomAD v3:
11-67461242-C-T
gnomAD v4:
11-67461242-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67461242C>T , CM000673.2:g.67461242C>T | GRCh38 |
| NC_000011.9:g.67228713C>T , CM000673.1:g.67228713C>T | GRCh37 |
| NC_000011.8:g.66985289C>T | NCBI36 |
| NG_021211.1:g.10896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325656.7:c.*2583C>T MANE Select | ENSP00000324960.5:n.*2583C>T | |
| NM_001300895.1:c.*2583C>T | NP_001287824.1:n.*2583C>T | |
| NM_001300896.1:c.*2583C>T | NP_001287825.1:n.*2583C>T | |
| NM_145200.3:c.*2583C>T | NP_660201.1:n.*2583C>T | |
| XM_024448615.1:c.*2583C>T | XP_024304383.1:n.*2583C>T | |
| XM_024448616.1:c.*2583C>T | XP_024304384.1:n.*2583C>T | |
| NM_001300895.2:c.*2583C>T | NP_001287824.1:n.*2583C>T | |
| NM_001300896.2:c.*2583C>T | NP_001287825.1:n.*2583C>T | |
| NM_145200.4:c.*2583C>T | NP_660201.1:n.*2583C>T | |
| NM_001300895.3:c.*2583C>T | NP_001287824.1:n.*2583C>T | |
| NM_001300896.3:c.*2583C>T | NP_001287825.1:n.*2583C>T | |
| NM_001379183.1:c.*2583C>T | NP_001366112.1:n.*2583C>T | |
| NM_145200.5:c.*2583C>T MANE Select | NP_660201.1:n.*2583C>T | |
| NR_166529.1:n.3306C>T |