Linked Data
ClinVar Variation Id:
1147067
ClinVar RCV Id:
RCV001486472
dbSNP Id:
rs547258651
gnomAD v3:
11-5225924-C-A
gnomAD v4:
11-5225924-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225924C>A , CM000673.2:g.5225924C>A | GRCh38 |
| NC_000011.9:g.5247154C>A , CM000673.1:g.5247154C>A | GRCh37 |
| NC_000011.8:g.5203730C>A | NCBI36 |
| NG_000007.3:g.71692G>T | |
| NG_059281.1:g.6148G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.316-198G>T | ENSP00000494175.1:n.316-198G>T | |
| ENST00000335295.4:c.316-198G>T MANE Select | ENSP00000333994.3:n.316-198G>T | |
| ENST00000475226.1:n.248-198G>T | ||
| ENST00000633227.1:c.*132-198G>T | ENSP00000488004.1:n.*132-198G>T | |
| NM_000518.4:c.316-198G>T | NP_000509.1:n.316-198G>T | |
| NM_000518.5:c.316-198G>T MANE Select | NP_000509.1:n.316-198G>T |