Linked Data
ClinVar Variation Id:
48399
dbSNP Id:
rs115884084
ExAC:
1:215848808 A / G
gnomAD v2:
1-215848808-A-G
gnomAD v3:
1-215675466-A-G
gnomAD v4:
1-215675466-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675466A>G , CM000663.2:g.215675466A>G | GRCh38 |
| NC_000001.10:g.215848808A>G , CM000663.1:g.215848808A>G | GRCh37 |
| NC_000001.9:g.213915431A>G | NCBI36 |
| NG_009497.1:g.752931T>C | |
| NG_009497.2:g.752983T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12445T>C MANE Select | ENSP00000305941.3:p.Trp4149Arg | |
| ENST00000674083.1:c.12445T>C | ENSP00000501296.1:p.Trp4149Arg | |
| ENST00000307340.7:c.12445T>C | ENSP00000305941.3:p.Trp4149Arg | |
| NM_206933.2:c.12445T>C | NP_996816.2:p.Trp4149Arg | |
| NM_206933.3:c.12445T>C | NP_996816.2:p.Trp4149Arg | |
| NM_206933.4:c.12445T>C MANE Select | NP_996816.3:p.Trp4149Arg |