Linked Data
ClinVar Variation Id:
291645
dbSNP Id:
rs551392566
gnomAD v2:
1-10440284-T-C
gnomAD v3:
1-10380226-T-C
gnomAD v4:
1-10380226-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10380226T>C , CM000663.2:g.10380226T>C | GRCh38 |
| NC_000001.10:g.10440284T>C , CM000663.1:g.10440284T>C | GRCh37 |
| NC_000001.9:g.10362871T>C | NCBI36 |
| NG_008069.1:g.174521T>C , LRG_252:g.174521T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000676179.1:c.*3639T>C MANE Select | ENSP00000502065.1:n.*3639T>C | |
| ENST00000377081.5:c.*1824T>C | ENSP00000366284.1:n.*1824T>C | |
| ENST00000377086.5:c.*3639T>C | ENSP00000366290.1:n.*3639T>C | |
| ENST00000620295.2:c.7254T>C | ENSP00000478500.1:n.7254T>C | |
| ENST00000622724.3:c.7218T>C | ENSP00000480063.1:n.7218T>C | |
| NM_015074.3:c.*3639T>C , LRG_252t1:c.*3639T>C | NP_055889.2:n.*3639T>C | |
| NM_001365951.1:c.*3639T>C | NP_001352880.1:n.*3639T>C | |
| NM_001365952.1:c.*3639T>C | NP_001352881.1:n.*3639T>C | |
| NM_001365951.3:c.*3639T>C MANE Select | NP_001352880.1:n.*3639T>C |