Linked Data
ClinVar Variation Id:
994010
ClinVar RCV Id:
RCV001813018
dbSNP Id:
rs63750433
gnomAD v2:
11-5247046-T-C
gnomAD v3:
11-5225816-T-C
gnomAD v4:
11-5225816-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225816T>C , CM000673.2:g.5225816T>C | GRCh38 |
| NC_000011.9:g.5247046T>C , CM000673.1:g.5247046T>C | GRCh37 |
| NC_000011.8:g.5203622T>C | NCBI36 |
| NG_000007.3:g.71800A>G | |
| NG_059281.1:g.6256A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.316-90A>G | ENSP00000494175.1:n.316-90A>G | |
| ENST00000335295.4:c.316-90A>G MANE Select | ENSP00000333994.3:n.316-90A>G | |
| ENST00000475226.1:n.248-90A>G | ||
| ENST00000633227.1:c.*132-90A>G | ENSP00000488004.1:n.*132-90A>G | |
| NM_000518.4:c.316-90A>G | NP_000509.1:n.316-90A>G | |
| NM_000518.5:c.316-90A>G MANE Select | NP_000509.1:n.316-90A>G |