Linked Data
ClinVar Variation Id:
1326072
dbSNP Id:
rs113994122
gnomAD v2:
9-136404921-G-T
gnomAD v4:
9-133539799-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133539799G>T , CM000671.2:g.133539799G>T | GRCh38 |
| NC_000009.11:g.136404921G>T , CM000671.1:g.136404921G>T | GRCh37 |
| NC_000009.10:g.135394742G>T | NCBI36 |
| NG_009931.1:g.12636G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651351.2:c.338G>T MANE Select | ENSP00000498961.2:p.Arg113Leu | |
| ENST00000354484.8:c.338G>T | ENSP00000346478.4:p.Arg113Leu | |
| ENST00000393060.1:c.338G>T | ENSP00000376780.1:p.Arg113Leu | |
| ENST00000393061.7:c.665G>T | ENSP00000376781.3:p.Arg222Leu | |
| NM_001145320.1:c.338G>T | NP_001138792.1:p.Arg113Leu | |
| NM_014694.3:c.338G>T | NP_055509.2:p.Arg113Leu | |
| XM_005272237.2:c.665G>T | XP_005272294.1:p.Arg222Leu | |
| XM_005272238.2:c.373G>T | XP_005272295.1:p.Ala125Ser | |
| XM_005272239.2:c.338G>T | XP_005272296.1:p.Arg113Leu | |
| XM_006717337.2:c.338G>T | XP_006717400.1:p.Arg113Leu | |
| XM_011519241.1:c.226G>T | XP_011517543.1:p.Ala76Ser | |
| XM_011519242.1:c.404G>T | XP_011517544.1:p.Arg135Leu | |
| XM_005272237.3:c.665G>T | XP_005272294.1:p.Arg222Leu | |
| XM_005272238.3:c.373G>T | XP_005272295.1:p.Ala125Ser | |
| XM_011519241.2:c.553G>T | XP_011517543.2:p.Ala185Ser | |
| XM_011519242.3:c.404G>T | XP_011517544.1:p.Arg135Leu | |
| NM_014694.4:c.338G>T MANE Select | NP_055509.2:p.Arg113Leu | |
| NM_001145320.2:c.338G>T | NP_001138792.1:p.Arg113Leu |