Linked Data
ClinVar Variation Id:
291620
dbSNP Id:
rs574858597
gnomAD v2:
1-10438913-C-T
gnomAD v3:
1-10378855-C-T
gnomAD v4:
1-10378855-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10378855C>T , CM000663.2:g.10378855C>T | GRCh38 |
| NC_000001.10:g.10438913C>T , CM000663.1:g.10438913C>T | GRCh37 |
| NC_000001.9:g.10361500C>T | NCBI36 |
| NG_008069.1:g.173150C>T , LRG_252:g.173150C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000676179.1:c.*2268C>T MANE Select | ENSP00000502065.1:n.*2268C>T | |
| ENST00000377081.5:c.*453C>T | ENSP00000366284.1:n.*453C>T | |
| ENST00000377086.5:c.*2268C>T | ENSP00000366290.1:n.*2268C>T | |
| ENST00000620295.2:c.5883C>T | ENSP00000478500.1:n.5883C>T | |
| ENST00000622724.3:c.5847C>T | ENSP00000480063.1:n.5847C>T | |
| NM_015074.3:c.*2268C>T , LRG_252t1:c.*2268C>T | NP_055889.2:n.*2268C>T | |
| NM_001365951.1:c.*2268C>T | NP_001352880.1:n.*2268C>T | |
| NM_001365952.1:c.*2268C>T | NP_001352881.1:n.*2268C>T | |
| NM_001365951.3:c.*2268C>T MANE Select | NP_001352880.1:n.*2268C>T |