Linked Data
ClinVar Variation Id:
305718
ClinVar RCV Id:
RCV000407477
dbSNP Id:
rs571674945
gnomAD v2:
11-67229173-C-T
gnomAD v3:
11-67461702-C-T
gnomAD v4:
11-67461702-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67461702C>T , CM000673.2:g.67461702C>T | GRCh38 |
| NC_000011.9:g.67229173C>T , CM000673.1:g.67229173C>T | GRCh37 |
| NC_000011.8:g.66985749C>T | NCBI36 |
| NG_021211.1:g.11356C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325656.7:c.*3043C>T MANE Select | ENSP00000324960.5:n.*3043C>T | |
| NM_001300895.1:c.*3043C>T | NP_001287824.1:n.*3043C>T | |
| NM_001300896.1:c.*3043C>T | NP_001287825.1:n.*3043C>T | |
| NM_145200.3:c.*3043C>T | NP_660201.1:n.*3043C>T | |
| XM_024448615.1:c.*3043C>T | XP_024304383.1:n.*3043C>T | |
| XM_024448616.1:c.*3043C>T | XP_024304384.1:n.*3043C>T | |
| NM_001300895.2:c.*3043C>T | NP_001287824.1:n.*3043C>T | |
| NM_001300896.2:c.*3043C>T | NP_001287825.1:n.*3043C>T | |
| NM_145200.4:c.*3043C>T | NP_660201.1:n.*3043C>T | |
| NM_001300895.3:c.*3043C>T | NP_001287824.1:n.*3043C>T | |
| NM_001300896.3:c.*3043C>T | NP_001287825.1:n.*3043C>T | |
| NM_001379183.1:c.*3043C>T | NP_001366112.1:n.*3043C>T | |
| NM_145200.5:c.*3043C>T MANE Select | NP_660201.1:n.*3043C>T | |
| NR_166529.1:n.3766C>T |