Linked Data
ClinVar Variation Id:
36293
ClinVar RCV Id:
RCV000781449
dbSNP Id:
rs386134236
ExAC:
11:5248302 A / G
gnomAD v2:
11-5248302-A-G
gnomAD v3:
11-5227072-A-G
gnomAD v4:
11-5227072-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227072A>G , CM000673.2:g.5227072A>G | GRCh38 |
| NC_000011.9:g.5248302A>G , CM000673.1:g.5248302A>G | GRCh37 |
| NC_000011.8:g.5204878A>G | NCBI36 |
| NG_000007.3:g.70544T>C | |
| NG_059281.1:g.5000T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.-51T>C | ENSP00000494175.1:n.-51T>C | |
| ENST00000380315.2:c.-18-33T>C | ENSP00000369671.2:n.-18-33T>C | |
| ENST00000485743.1:n.1T>C |