Linked Data
ClinVar Variation Id:
68066
ClinVar RCV Id:
RCV000058870
dbSNP Id:
rs179363897
gnomAD v2:
2-170349410-G-A
gnomAD v4:
2-169492900-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169492900G>A , CM000664.2:g.169492900G>A | GRCh38 |
| NC_000002.11:g.170349410G>A , CM000664.1:g.170349410G>A | GRCh37 |
| NC_000002.10:g.170057656G>A | NCBI36 |
| NG_011567.1:g.18405G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295240.8:c.413G>A MANE Select | ENSP00000295240.3:p.Arg138His | |
| ENST00000295240.7:c.413G>A | ENSP00000295240.3:p.Arg138His | |
| ENST00000392663.6:c.413G>A | ENSP00000376431.2:p.Arg138His | |
| ENST00000443151.1:c.*135G>A | ENSP00000406182.1:n.*135G>A | |
| ENST00000475571.1:n.380G>A | ||
| ENST00000513963.1:c.413G>A | ENSP00000424363.1:p.Arg138His | |
| NM_152384.2:c.413G>A | NP_689597.1:p.Arg138His | |
| NM_152384.3:c.413G>A MANE Select | NP_689597.1:p.Arg138His |