Linked Data
ClinVar Variation Id:
1747226
dbSNP Id:
rs1297525468
gnomAD v3:
10-102504163-T-G
gnomAD v4:
10-102504163-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102504163T>G , CM000672.2:g.102504163T>G | GRCh38 |
| NC_000010.10:g.104263920T>G , CM000672.1:g.104263920T>G | GRCh37 |
| NC_000010.9:g.104253910T>G | NCBI36 |
| NG_011901.1:g.3593A>C | |
| NG_021338.1:g.5202T>G , LRG_521:g.5202T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369902.8:c.11T>G MANE Select | ENSP00000358918.4:p.Leu4Arg | |
| ENST00000369899.6:c.11T>G | ENSP00000358915.2:p.Leu4Arg | |
| ENST00000369902.7:c.11T>G | ENSP00000358918.3:p.Leu4Arg | |
| ENST00000423559.2:c.11T>G | ENSP00000411597.2:p.Leu4Arg | |
| NM_001178133.1:c.11T>G | NP_001171604.1:p.Leu4Arg | |
| NM_016169.3:c.11T>G , LRG_521t1:c.11T>G | NP_057253.2:p.Leu4Arg | |
| XM_011539858.1:c.11T>G | XP_011538160.1:p.Leu4Arg | |
| XM_011539859.1:c.11T>G | XP_011538161.1:p.Leu4Arg | |
| XM_011539860.1:c.11T>G | XP_011538162.1:p.Leu4Arg | |
| XM_011539861.1:c.11T>G | XP_011538163.1:p.Leu4Arg | |
| XM_011539863.1:c.8+1177T>G | XP_011538165.1:n.8+1177T>G | |
| XM_011539864.1:c.11T>G | XP_011538166.1:p.Leu4Arg | |
| XM_011539858.3:c.11T>G | XP_011538160.1:p.Leu4Arg | |
| XM_011539860.3:c.11T>G | XP_011538162.1:p.Leu4Arg | |
| XM_011539861.3:c.11T>G | XP_011538163.1:p.Leu4Arg | |
| XM_011539863.3:c.8+1177T>G | XP_011538165.1:n.8+1177T>G | |
| XM_011539864.3:c.11T>G | XP_011538166.1:p.Leu4Arg | |
| NM_001178133.2:c.11T>G | NP_001171604.1:p.Leu4Arg | |
| NM_016169.4:c.11T>G MANE Select | NP_057253.2:p.Leu4Arg |