Linked Data
ClinVar Variation Id:
486723
ClinVar RCV Id:
RCV003316748
dbSNP Id:
rs3218536
ExAC:
7:152346007 C / T
gnomAD v2:
7-152346007-C-T
gnomAD v3:
7-152648922-C-T
gnomAD v4:
7-152648922-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648922C>T , CM000669.2:g.152648922C>T | GRCh38 |
| NC_000007.13:g.152346007C>T , CM000669.1:g.152346007C>T | GRCh37 |
| NC_000007.12:g.151976940C>T | NCBI36 |
| NG_027988.1:g.32244G>A | |
| NG_027988.2:g.32244G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698506.1:c.395G>A | ENSP00000513758.1:p.Arg132His | |
| ENST00000359321.2:c.563G>A MANE Select | ENSP00000352271.1:p.Arg188His | |
| ENST00000359321.1:c.563G>A | ENSP00000352271.1:p.Arg188His | |
| ENST00000495707.1:n.585G>A | ||
| NM_005431.1:c.563G>A | NP_005422.1:p.Arg188His | |
| NM_005431.2:c.563G>A MANE Select | NP_005422.1:p.Arg188His |