Linked Data
ClinVar Variation Id:
368568
ClinVar RCV Id:
RCV000298907
dbSNP Id:
rs192734396
gnomAD v2:
X-53404415-T-G
gnomAD v3:
X-53377494-T-G
gnomAD v4:
X-53377494-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53377494T>G , CM000685.2:g.53377494T>G | GRCh38 |
| NC_000023.10:g.53404415T>G , CM000685.1:g.53404415T>G | GRCh37 |
| NC_000023.9:g.53421140T>G | NCBI36 |
| NG_006988.2:g.50177A>C , LRG_773:g.50177A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322213.9:c.*2609A>C MANE Select | ENSP00000323421.3:n.*2609A>C | |
| ENST00000675504.1:c.*2609A>C | ENSP00000502524.1:n.*2609A>C | |
| ENST00000322213.8:c.*2609A>C | ENSP00000323421.3:n.*2609A>C | |
| ENST00000375340.10:c.*2609A>C | ENSP00000364489.7:n.*2609A>C | |
| NM_001281463.1:c.*2609A>C , LRG_773t1:c.*2609A>C | NP_001268392.1:n.*2609A>C | |
| NM_006306.3:c.*2609A>C , LRG_773t2:c.*2609A>C | NP_006297.2:n.*2609A>C | |
| NM_006306.4:c.*2609A>C MANE Select | NP_006297.2:n.*2609A>C |