Linked Data
ClinVar Variation Id:
1511922
ClinVar RCV Id:
RCV002016947
dbSNP Id:
rs760096037
ExAC:
2:223493596 G / C
gnomAD v2:
2-223493596-G-C
gnomAD v4:
2-222628877-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.222628877G>C , CM000664.2:g.222628877G>C | GRCh38 |
| NC_000002.11:g.223493596G>C , CM000664.1:g.223493596G>C | GRCh37 |
| NC_000002.10:g.223201840G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281828.8:c.860C>G MANE Select | ENSP00000281828.6:p.Ala287Gly | |
| ENST00000281828.6:c.860C>G | ENSP00000281828.6:p.Ala287Gly | |
| NM_005687.4:c.860C>G | NP_005678.3:p.Ala287Gly | |
| NR_130154.1:n.1338C>G | ||
| XM_006712169.1:c.563C>G | XP_006712232.1:p.Ala188Gly | |
| XM_006712170.1:c.563C>G | XP_006712233.1:p.Ala188Gly | |
| XM_011510466.1:c.563C>G | XP_011508768.1:p.Ala188Gly | |
| XM_006712169.2:c.563C>G | XP_006712232.1:p.Ala188Gly | |
| XM_011510466.2:c.563C>G | XP_011508768.1:p.Ala188Gly | |
| XM_017003110.2:c.563C>G | XP_016858599.1:p.Ala188Gly | |
| XM_024452492.1:c.563C>G | XP_024308260.1:p.Ala188Gly | |
| NM_005687.5:c.860C>G MANE Select | NP_005678.3:p.Ala287Gly | |
| NR_130154.2:n.1075C>G |