Linked Data
ClinVar Variation Id:
36290
ClinVar RCV Id:
RCV000029955
dbSNP Id:
rs193922550
gnomAD v2:
11-5248266-G-T
gnomAD v3:
11-5227036-G-T
gnomAD v4:
11-5227036-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227036G>T , CM000673.2:g.5227036G>T | GRCh38 |
| NC_000011.9:g.5248266G>T , CM000673.1:g.5248266G>T | GRCh37 |
| NC_000011.8:g.5204842G>T | NCBI36 |
| NG_000007.3:g.70580C>A | |
| NG_059281.1:g.5036C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.-15C>A | ENSP00000494175.1:n.-15C>A | |
| ENST00000335295.4:c.-15C>A MANE Select | ENSP00000333994.3:n.-15C>A | |
| ENST00000380315.2:c.-15C>A | ENSP00000369671.2:n.-15C>A | |
| ENST00000485743.1:n.37C>A | ||
| ENST00000633227.1:c.-15C>A | ENSP00000488004.1:n.-15C>A | |
| NM_000518.4:c.-15C>A | NP_000509.1:n.-15C>A | |
| NM_000518.5:c.-15C>A MANE Select | NP_000509.1:n.-15C>A |