Linked Data
ClinVar Variation Id:
1378421
ClinVar RCV Id:
RCV001914609
dbSNP Id:
rs1329812513
gnomAD v2:
3-148459250-T-G
gnomAD v4:
3-148741463-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148741463T>G , CM000665.2:g.148741463T>G | GRCh38 |
| NC_000003.11:g.148459250T>G , CM000665.1:g.148459250T>G | GRCh37 |
| NC_000003.10:g.149941940T>G | NCBI36 |
| NG_008468.1:g.48593T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349243.8:c.428T>G MANE Select | ENSP00000273430.3:p.Leu143Arg | |
| ENST00000402260.2:c.428T>G | ENSP00000385641.3:p.Leu143Arg | |
| ENST00000418473.7:c.428T>G | ENSP00000398832.4:p.Leu143Arg | |
| ENST00000349243.7:c.428T>G | ENSP00000273430.3:p.Leu143Arg | |
| ENST00000402260.1:c.515T>G | ENSP00000385641.2:p.Leu172Arg | |
| ENST00000404754.2:c.428T>G | ENSP00000385612.2:p.Leu143Arg | |
| ENST00000418473.6:c.533T>G | ENSP00000398832.3:p.Leu178Arg | |
| ENST00000461609.1:c.428T>G | ENSP00000418851.1:p.Leu143Arg | |
| ENST00000474935.5:c.428T>G | ENSP00000418084.1:p.Leu143Arg | |
| ENST00000475347.5:c.428T>G | ENSP00000419783.1:p.Leu143Arg | |
| ENST00000497524.5:c.428T>G | ENSP00000419422.1:p.Leu143Arg | |
| NM_000685.4:c.428T>G | NP_000676.1:p.Leu143Arg | |
| NM_004835.4:c.533T>G | NP_004826.5:p.Leu178Arg | |
| NM_009585.3:c.428T>G | NP_033611.1:p.Leu143Arg | |
| NM_031850.3:c.533T>G | NP_114038.4:p.Leu178Arg | |
| NM_032049.3:c.515T>G | NP_114438.2:p.Leu172Arg | |
| NM_000685.5:c.428T>G MANE Select | NP_000676.1:p.Leu143Arg | |
| NM_001382736.1:c.428T>G | NP_001369665.1:p.Leu143Arg | |
| NM_001382737.1:c.428T>G | NP_001369666.1:p.Leu143Arg | |
| NM_004835.5:c.428T>G | NP_004826.6:p.Leu143Arg | |
| NM_009585.4:c.428T>G | NP_033611.1:p.Leu143Arg | |
| NM_031850.4:c.428T>G | NP_114038.5:p.Leu143Arg | |
| NM_032049.4:c.428T>G | NP_114438.3:p.Leu143Arg |