Linked Data
ClinVar Variation Id:
12712
dbSNP Id:
rs34377097
ExAC:
19:3600454 C / A
gnomAD v2:
19-3600454-C-A
gnomAD v3:
19-3600456-C-A
gnomAD v4:
19-3600456-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3600456C>A , CM000681.2:g.3600456C>A | GRCh38 |
| NC_000019.9:g.3600454C>A , CM000681.1:g.3600454C>A | GRCh37 |
| NC_000019.8:g.3551454C>A | NCBI36 |
| NG_013363.1:g.11378G>T , LRG_578:g.11378G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.179G>T MANE Select | ENSP00000364336.4:p.Arg60Leu | |
| ENST00000375190.8:c.179G>T | ENSP00000364336.3:p.Arg60Leu | |
| ENST00000411851.3:c.179G>T | ENSP00000393333.2:p.Arg60Leu | |
| ENST00000589966.1:c.179G>T | ENSP00000468145.1:p.Arg60Leu | |
| NM_001060.5:c.179G>T , LRG_578t1:c.179G>T | NP_001051.1:p.Arg60Leu | |
| NM_201636.2:c.179G>T | NP_963998.2:p.Arg60Leu | |
| XM_011528214.1:c.179G>T | XP_011526516.1:p.Arg60Leu | |
| XM_011528214.2:c.179G>T | XP_011526516.1:p.Arg60Leu | |
| NM_001060.6:c.179G>T MANE Select | NP_001051.1:p.Arg60Leu | |
| NM_201636.3:c.179G>T | NP_963998.2:p.Arg60Leu |