Linked Data
ClinVar Variation Id:
2870053
ClinVar RCV Id:
RCV003654507
dbSNP Id:
rs751040819
gnomAD v4:
19-4090611-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090611C>A , CM000681.2:g.4090611C>A | GRCh38 |
| NC_000019.9:g.4090609C>A , CM000681.1:g.4090609C>A | GRCh37 |
| NC_000019.8:g.4041609C>A | NCBI36 |
| NG_007996.1:g.38518G>T , LRG_750:g.38518G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1629G>T | ||
| ENST00000688002.1:n.3341G>T | ||
| ENST00000688751.1:n.326G>T | ||
| ENST00000689792.1:n.1094G>T | ||
| ENST00000262948.10:c.1190G>T MANE Select | ENSP00000262948.4:p.Arg397Leu | |
| ENST00000262948.9:c.1190G>T | ENSP00000262948.3:p.Arg397Leu | |
| ENST00000394867.8:c.899G>T | ENSP00000378336.1:p.Arg300Leu | |
| ENST00000597263.5:n.375G>T | ||
| ENST00000599021.1:c.300G>T | ||
| ENST00000600584.5:n.2639G>T | ||
| ENST00000601786.5:n.1491G>T | ||
| NM_030662.3:c.1190G>T , LRG_750t1:c.1190G>T | NP_109587.1:p.Arg397Leu | |
| XM_006722799.2:c.911G>T | XP_006722862.1:p.Arg304Leu | |
| XM_011528133.1:c.620G>T | XP_011526435.1:p.Arg207Leu | |
| NM_030662.4:c.1190G>T MANE Select | NP_109587.1:p.Arg397Leu |