Linked Data
ClinVar Variation Id:
576743
ClinVar RCV Id:
RCV000699311
dbSNP Id:
rs912419331
gnomAD v2:
1-160098467-G-A
gnomAD v3:
1-160128677-G-A
gnomAD v4:
1-160128677-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160128677G>A , CM000663.2:g.160128677G>A | GRCh38 |
| NC_000001.10:g.160098467G>A , CM000663.1:g.160098467G>A | GRCh37 |
| NC_000001.9:g.158365091G>A | NCBI36 |
| NG_008014.1:g.17920G>A , LRG_6:g.17920G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361216.8:c.1043G>A MANE Select | ENSP00000354490.3:p.Arg348His | |
| ENST00000361216.7:c.1043G>A | ENSP00000354490.3:p.Arg348His | |
| ENST00000392233.7:c.1043G>A | ENSP00000376066.3:p.Arg348His | |
| ENST00000447527.1:c.175G>A | ||
| ENST00000472488.5:n.1146G>A | ||
| NM_000702.3:c.1043G>A | NP_000693.1:p.Arg348His | |
| NM_000702.4:c.1043G>A MANE Select | NP_000693.1:p.Arg348His |