Linked Data
ClinVar Variation Id:
291613
ClinVar RCV Id:
RCV000377832
dbSNP Id:
rs886044997
gnomAD v2:
1-10438642-T-C
gnomAD v3:
1-10378584-T-C
gnomAD v4:
1-10378584-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10378584T>C , CM000663.2:g.10378584T>C | GRCh38 |
| NC_000001.10:g.10438642T>C , CM000663.1:g.10438642T>C | GRCh37 |
| NC_000001.9:g.10361229T>C | NCBI36 |
| NG_008069.1:g.172879T>C , LRG_252:g.172879T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000676179.1:c.*1997T>C MANE Select | ENSP00000502065.1:n.*1997T>C | |
| ENST00000377081.5:c.*182T>C | ENSP00000366284.1:n.*182T>C | |
| ENST00000377086.5:c.*1997T>C | ENSP00000366290.1:n.*1997T>C | |
| ENST00000620295.2:c.5612T>C | ENSP00000478500.1:n.5612T>C | |
| ENST00000622724.3:c.5576T>C | ENSP00000480063.1:n.5576T>C | |
| NM_015074.3:c.*1997T>C , LRG_252t1:c.*1997T>C | NP_055889.2:n.*1997T>C | |
| NM_001365951.1:c.*1997T>C | NP_001352880.1:n.*1997T>C | |
| NM_001365952.1:c.*1997T>C | NP_001352881.1:n.*1997T>C | |
| NM_001365951.3:c.*1997T>C MANE Select | NP_001352880.1:n.*1997T>C |