Linked Data
ClinVar Variation Id:
941872
dbSNP Id:
rs1248833348
gnomAD v2:
2-220283744-T-G
gnomAD v3:
2-219419022-T-G
gnomAD v4:
2-219419022-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219419022T>G , CM000664.2:g.219419022T>G | GRCh38 |
| NC_000002.11:g.220283744T>G , CM000664.1:g.220283744T>G | GRCh37 |
| NC_000002.10:g.219991988T>G | NCBI36 |
| NG_008043.1:g.5646T>G , LRG_380:g.5646T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373960.4:c.560T>G MANE Select | ENSP00000363071.3:p.Leu187Arg | |
| ENST00000373960.3:c.560T>G | ENSP00000363071.3:p.Leu187Arg | |
| NM_001927.3:c.560T>G , LRG_380t1:c.560T>G | NP_001918.3:p.Leu187Arg | |
| NM_001927.4:c.560T>G MANE Select | NP_001918.3:p.Leu187Arg | |
| NM_001382708.1:c.560T>G | NP_001369637.1:p.Leu187Arg | |
| NM_001382709.1:c.560T>G | NP_001369638.1:p.Leu187Arg | |
| NM_001382710.1:c.560T>G | NP_001369639.1:p.Leu187Arg | |
| NM_001382711.1:c.560T>G | NP_001369640.1:p.Leu187Arg | |
| NM_001382712.1:c.560T>G | NP_001369641.1:p.Leu187Arg | |
| NM_001382713.1:c.495+65T>G | NP_001369642.1:n.495+65T>G |