Linked Data
ClinVar Variation Id:
476532
dbSNP Id:
rs773631759
ExAC:
2:238275702 C / T
gnomAD v2:
2-238275702-C-T
gnomAD v3:
2-237367059-C-T
gnomAD v4:
2-237367059-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237367059C>T , CM000664.2:g.237367059C>T | GRCh38 |
| NC_000002.11:g.238275702C>T , CM000664.1:g.238275702C>T | GRCh37 |
| NC_000002.10:g.237940441C>T | NCBI36 |
| NG_008676.1:g.52149G>A , LRG_473:g.52149G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.4510G>A | ENSP00000315873.4:p.Val1504Ile | |
| ENST00000295550.9:c.5128G>A MANE Select | ENSP00000295550.4:p.Val1710Ile | |
| ENST00000295550.8:c.5128G>A | ENSP00000295550.4:p.Val1710Ile | |
| ENST00000347401.7:c.3307G>A | ENSP00000315609.4:p.Val1103Ile | |
| ENST00000353578.8:c.4510G>A | ENSP00000315873.4:p.Val1504Ile | |
| ENST00000409809.5:c.4510G>A | ENSP00000386844.1:p.Val1504Ile | |
| ENST00000472056.5:c.3307G>A | ENSP00000418285.1:p.Val1103Ile | |
| NM_004369.3:c.5128G>A , LRG_473t1:c.5128G>A | NP_004360.2:p.Val1710Ile | |
| NM_057166.4:c.3307G>A | NP_476507.3:p.Val1103Ile | |
| NM_057167.3:c.4510G>A | NP_476508.2:p.Val1504Ile | |
| XM_005246065.1:c.4528G>A | XP_005246122.1:p.Val1510Ile | |
| XM_005246066.1:c.3907G>A | XP_005246123.1:p.Val1303Ile | |
| XM_006712253.1:c.4627G>A | XP_006712316.1:p.Val1543Ile | |
| XM_011510574.1:c.5125G>A | XP_011508876.1:p.Val1709Ile | |
| XM_011510575.1:c.2722G>A | XP_011508877.1:p.Val908Ile | |
| XM_017003304.1:c.2722G>A | XP_016858793.1:p.Val908Ile | |
| XM_024452684.1:c.3907G>A | XP_024308452.1:p.Val1303Ile | |
| NM_004369.4:c.5128G>A MANE Select | NP_004360.2:p.Val1710Ile | |
| NM_057166.5:c.3307G>A | NP_476507.3:p.Val1103Ile | |
| NM_057167.4:c.4510G>A | NP_476508.2:p.Val1504Ile |