Linked Data
ClinVar Variation Id:
362518
dbSNP Id:
rs144643140
ExAC:
8:21983193 T / C
gnomAD v2:
8-21983193-T-C
gnomAD v3:
8-22125680-T-C
gnomAD v4:
8-22125680-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22125680T>C , CM000670.2:g.22125680T>C | GRCh38 |
| NC_000008.10:g.21983193T>C , CM000670.1:g.21983193T>C | GRCh37 |
| NC_000008.9:g.22039138T>C | NCBI36 |
| NG_008166.1:g.9838A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381418.9:c.1458A>G MANE Select | ENSP00000370826.4:p.Pro486= | |
| ENST00000680789.1:c.1458A>G | ENSP00000505181.1:p.Pro486= | |
| ENST00000312841.9:c.1458A>G | ENSP00000326765.8:p.Pro486= | |
| ENST00000381418.8:c.1458A>G | ENSP00000370826.4:p.Pro486= | |
| NM_005144.4:c.1458A>G | NP_005135.2:p.Pro486= | |
| NM_018411.4:c.1458A>G | NP_060881.2:p.Pro486= | |
| XM_005273569.1:c.1458A>G | XP_005273626.1:p.Pro486= | |
| XM_006716367.1:c.1458A>G | XP_006716430.1:p.Pro486= | |
| XM_005273569.2:c.1458A>G | XP_005273626.1:p.Pro486= | |
| XM_006716367.2:c.1458A>G | XP_006716430.1:p.Pro486= | |
| NM_005144.5:c.1458A>G MANE Select | NP_005135.2:p.Pro486= |