Linked Data
ClinVar Variation Id:
181697
ClinVar RCV Id:
RCV000159430
RCV000246043
RCV000474573
RCV000769524
RCV000996672
RCV001173539
RCV004551363
dbSNP Id:
rs138657343
ExAC:
18:29171879 G / A
gnomAD v2:
18-29171879-G-A
gnomAD v3:
18-31591916-G-A
gnomAD v4:
18-31591916-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31591916G>A , CM000680.2:g.31591916G>A | GRCh38 |
| NC_000018.9:g.29171879G>A , CM000680.1:g.29171879G>A | GRCh37 |
| NC_000018.8:g.27425877G>A | NCBI36 |
| NG_009490.1:g.5150G>A , LRG_416:g.5150G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.14G>A MANE Select | ENSP00000237014.4:p.Arg5His | |
| ENST00000610404.5:c.-27-980G>A | ENSP00000477599.2:n.-27-980G>A | |
| ENST00000613781.2:c.14G>A | ENSP00000479174.2:p.Arg5His | |
| ENST00000649620.1:c.14G>A | ENSP00000497927.1:p.Arg5His | |
| ENST00000676075.1:c.14G>A | ENSP00000502027.1:p.Arg5His | |
| ENST00000237014.7:c.14G>A | ENSP00000237014.3:p.Arg5His | |
| ENST00000432547.7:n.40G>A | ||
| ENST00000541025.2:n.40G>A | ||
| ENST00000610404.4:c.14G>A | ENSP00000477599.1:p.Arg5His | |
| ENST00000613781.1:c.14G>A | ENSP00000479174.1:p.Arg5His | |
| NM_000371.3:c.14G>A , LRG_416t1:c.14G>A | NP_000362.1:p.Arg5His | |
| NM_000371.4:c.14G>A MANE Select | NP_000362.1:p.Arg5His |