Linked Data
ClinVar Variation Id:
2199936
ClinVar RCV Id:
RCV002625219
dbSNP Id:
rs730880514
gnomAD v2:
19-4090687-C-A
gnomAD v3:
19-4090689-C-A
gnomAD v4:
19-4090689-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090689C>A , CM000681.2:g.4090689C>A | GRCh38 |
| NC_000019.9:g.4090687C>A , CM000681.1:g.4090687C>A | GRCh37 |
| NC_000019.8:g.4041687C>A | NCBI36 |
| NG_007996.1:g.38440G>T , LRG_750:g.38440G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1551G>T | ||
| ENST00000688002.1:n.3263G>T | ||
| ENST00000688751.1:n.248G>T | ||
| ENST00000689792.1:n.1016G>T | ||
| ENST00000262948.10:c.1112G>T MANE Select | ENSP00000262948.4:p.Arg371Leu | |
| ENST00000262948.9:c.1112G>T | ENSP00000262948.3:p.Arg371Leu | |
| ENST00000394867.8:c.821G>T | ENSP00000378336.1:p.Arg274Leu | |
| ENST00000597263.5:n.297G>T | ||
| ENST00000599021.1:c.222G>T | ||
| ENST00000600584.5:n.2561G>T | ||
| ENST00000601786.5:n.1413G>T | ||
| NM_030662.3:c.1112G>T , LRG_750t1:c.1112G>T | NP_109587.1:p.Arg371Leu | |
| XM_006722799.2:c.833G>T | XP_006722862.1:p.Arg278Leu | |
| XM_011528133.1:c.542G>T | XP_011526435.1:p.Arg181Leu | |
| NM_030662.4:c.1112G>T MANE Select | NP_109587.1:p.Arg371Leu |