Linked Data
ClinVar Variation Id:
1579096
ClinVar RCV Id:
RCV002093066
dbSNP Id:
rs2126587113
gnomAD v4:
4-186198949-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186198949A>G , CM000666.2:g.186198949A>G | GRCh38 |
| NC_000004.11:g.187120103A>G , CM000666.1:g.187120103A>G | GRCh37 |
| NC_000004.10:g.187357097A>G | NCBI36 |
| NG_007965.1:g.12430A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.675-8A>G MANE Select | ENSP00000368079.4:n.675-8A>G | |
| ENST00000378802.4:c.675-8A>G | ENSP00000368079.4:n.675-8A>G | |
| ENST00000507209.5:n.1516-8A>G | ||
| NM_207352.3:c.675-8A>G | NP_997235.3:n.675-8A>G | |
| XM_005262935.2:c.675-8A>G | XP_005262992.1:n.675-8A>G | |
| XM_006714184.2:c.279-8A>G | XP_006714247.1:n.279-8A>G | |
| XM_005262935.4:c.675-8A>G | XP_005262992.1:n.675-8A>G | |
| XM_017008037.1:c.279-8A>G | XP_016863526.1:n.279-8A>G | |
| NM_207352.4:c.675-8A>G MANE Select | NP_997235.3:n.675-8A>G |