Linked Data
ClinVar Variation Id:
354339
ClinVar RCV Id:
RCV000313694
dbSNP Id:
rs886060803
gnomAD v4:
5-7869106-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7869106A>C , CM000667.2:g.7869106A>C | GRCh38 |
| NC_000005.9:g.7869219A>C , CM000667.1:g.7869219A>C | GRCh37 |
| NC_000005.8:g.7922219A>C | NCBI36 |
| NG_008856.1:g.5003A>C | |
| NG_033101.1:g.4932T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264668.6:c.-28A>C | ENSP00000264668.2:n.-28A>C | |
| ENST00000502509.5:n.499-6152A>C | ||
| ENST00000513439.5:c.-135A>C | ENSP00000426710.1:n.-135A>C | |
| NM_002454.2:c.-135A>C | NP_002445.2:n.-135A>C | |
| NM_024010.2:c.-28A>C | NP_076915.2:n.-28A>C | |
| XM_011514044.1:c.-25-1664A>C | XP_011512346.1:n.-25-1664A>C | |
| NR_134480.1:n.3A>C | ||
| NR_134481.1:n.3A>C | ||
| NR_134482.1:n.3A>C | ||
| XM_024446064.1:c.-25-1664A>C | XP_024301832.1:n.-25-1664A>C |