Linked Data
ClinVar Variation Id:
1686350
ClinVar RCV Id:
RCV002246863
dbSNP Id:
rs541270955
ExAC:
5:135382092 G / C
gnomAD v2:
5-135382092-G-C
gnomAD v3:
5-136046403-G-C
gnomAD v4:
5-136046403-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046403G>C , CM000667.2:g.136046403G>C | GRCh38 |
| NC_000005.9:g.135382092G>C , CM000667.1:g.135382092G>C | GRCh37 |
| NC_000005.8:g.135409991G>C | NCBI36 |
| NG_012646.1:g.22509G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.367G>C MANE Select | ENSP00000416330.2:p.Asp123His | |
| ENST00000442011.6:c.367G>C | ENSP00000416330.2:p.Asp123His | |
| ENST00000504185.5:n.524G>C | ||
| ENST00000506699.5:n.432G>C | ||
| ENST00000507018.5:c.284G>C | ||
| ENST00000515433.1:n.659G>C | ||
| NM_000358.2:c.367G>C | NP_000349.1:p.Asp123His | |
| NM_000358.3:c.367G>C MANE Select | NP_000349.1:p.Asp123His |