Linked Data
ClinVar Variation Id:
1747590
ClinVar RCV Id:
RCV002349642
dbSNP Id:
rs1238521406
gnomAD v2:
11-67257584-A-G
gnomAD v4:
11-67490113-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490113A>G , CM000673.2:g.67490113A>G | GRCh38 |
| NC_000011.9:g.67257584A>G , CM000673.1:g.67257584A>G | GRCh37 |
| NC_000011.8:g.67014160A>G | NCBI36 |
| NG_008969.1:g.12080A>G , LRG_460:g.12080A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.521A>G | ||
| ENST00000528641.7:c.355A>G | ENSP00000434982.3:p.Ile119Val | |
| ENST00000529797.2:n.1056A>G | ||
| ENST00000682324.1:c.468+658A>G | ENSP00000508017.1:n.468+658A>G | |
| ENST00000682659.1:c.175A>G | ENSP00000507351.1:p.Ile59Val | |
| ENST00000682699.1:c.544A>G | ENSP00000507935.1:p.Ile182Val | |
| ENST00000683237.1:c.544A>G | ENSP00000507343.1:p.Ile182Val | |
| ENST00000683856.1:c.367A>G | ENSP00000507979.1:p.Ile123Val | |
| ENST00000684006.1:c.544A>G | ENSP00000507269.1:p.Ile182Val | |
| ENST00000684657.1:c.364A>G | ENSP00000507961.1:p.Ile122Val | |
| ENST00000279146.8:c.544A>G MANE Select | ENSP00000279146.3:p.Ile182Val | |
| ENST00000279146.7:c.544A>G | ENSP00000279146.3:p.Ile182Val | |
| ENST00000525341.1:c.196A>G | ENSP00000476993.1:p.Ile66Val | |
| ENST00000528641.6:c.355A>G | ENSP00000434982.2:p.Ile119Val | |
| NM_001302959.1:c.367A>G | NP_001289888.1:p.Ile123Val | |
| NM_001302960.1:c.544A>G | NP_001289889.1:p.Ile182Val | |
| NM_003977.3:c.544A>G | NP_003968.3:p.Ile182Val | |
| XM_024448761.1:c.544A>G | XP_024304529.1:p.Ile182Val | |
| NM_003977.4:c.544A>G MANE Select | NP_003968.3:p.Ile182Val | |
| NM_001302960.2:c.544A>G | NP_001289889.1:p.Ile182Val | |
| NM_001302959.2:c.367A>G | NP_001289888.1:p.Ile123Val |