Linked Data
ClinVar Variation Id:
2878
ClinVar RCV Id:
RCV000003012
RCV000203182
RCV000256313
RCV000508774
RCV000605465
RCV000985896
RCV001099060
RCV001523785
RCV002381236
dbSNP Id:
rs11591147
ExAC:
1:55505647 G / T
gnomAD v2:
1-55505647-G-T
gnomAD v3:
1-55039974-G-T
gnomAD v4:
1-55039974-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55039974G>T , CM000663.2:g.55039974G>T | GRCh38 |
| NC_000001.10:g.55505647G>T , CM000663.1:g.55505647G>T | GRCh37 |
| NC_000001.9:g.55278235G>T | NCBI36 |
| NG_009061.1:g.5428G>T , LRG_275:g.5428G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673913.2:c.137G>T | ENSP00000501161.2:p.Arg46Leu | |
| ENST00000710286.1:c.494G>T | ENSP00000518176.1:p.Arg165Leu | |
| ENST00000673726.1:c.137G>T | ENSP00000501004.1:p.Arg46Leu | |
| ENST00000302118.5:c.137G>T MANE Select | ENSP00000303208.5:p.Arg46Leu | |
| NM_174936.3:c.137G>T , LRG_275t1:c.137G>T | NP_777596.2:p.Arg46Leu | |
| NM_174936.4:c.137G>T MANE Select | NP_777596.2:p.Arg46Leu |