Linked Data
ClinVar Variation Id:
374770
dbSNP Id:
rs201938007
ExAC:
2:238274436 G / A
gnomAD v2:
2-238274436-G-A
gnomAD v3:
2-237365793-G-A
gnomAD v4:
2-237365793-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237365793G>A , CM000664.2:g.237365793G>A | GRCh38 |
| NC_000002.11:g.238274436G>A , CM000664.1:g.238274436G>A | GRCh37 |
| NC_000002.10:g.237939175G>A | NCBI36 |
| NG_008676.1:g.53415C>T , LRG_473:g.53415C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.5125C>T | ENSP00000315873.4:p.Arg1709Trp | |
| ENST00000295550.9:c.5743C>T MANE Select | ENSP00000295550.4:p.Arg1915Trp | |
| ENST00000295550.8:c.5743C>T | ENSP00000295550.4:p.Arg1915Trp | |
| ENST00000347401.7:c.3922C>T | ENSP00000315609.4:p.Arg1308Trp | |
| ENST00000353578.8:c.5125C>T | ENSP00000315873.4:p.Arg1709Trp | |
| ENST00000409809.5:c.5125C>T | ENSP00000386844.1:p.Arg1709Trp | |
| ENST00000472056.5:c.3922C>T | ENSP00000418285.1:p.Arg1308Trp | |
| NM_004369.3:c.5743C>T , LRG_473t1:c.5743C>T | NP_004360.2:p.Arg1915Trp | |
| NM_057166.4:c.3922C>T | NP_476507.3:p.Arg1308Trp | |
| NM_057167.3:c.5125C>T | NP_476508.2:p.Arg1709Trp | |
| XM_005246065.1:c.5143C>T | XP_005246122.1:p.Arg1715Trp | |
| XM_005246066.1:c.4522C>T | XP_005246123.1:p.Arg1508Trp | |
| XM_006712253.1:c.5242C>T | XP_006712316.1:p.Arg1748Trp | |
| XM_011510574.1:c.5740C>T | XP_011508876.1:p.Arg1914Trp | |
| XM_011510575.1:c.3337C>T | XP_011508877.1:p.Arg1113Trp | |
| XM_017003304.1:c.3337C>T | XP_016858793.1:p.Arg1113Trp | |
| XM_024452684.1:c.4522C>T | XP_024308452.1:p.Arg1508Trp | |
| NM_004369.4:c.5743C>T MANE Select | NP_004360.2:p.Arg1915Trp | |
| NM_057166.5:c.3922C>T | NP_476507.3:p.Arg1308Trp | |
| NM_057167.4:c.5125C>T | NP_476508.2:p.Arg1709Trp |