Linked Data
ClinVar Variation Id:
661332
ClinVar RCV Id:
RCV000818726
dbSNP Id:
rs782094303
ExAC:
8:145106921 C / T
gnomAD v2:
8-145106921-C-T
gnomAD v4:
8-144052020-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144052020C>T , CM000670.2:g.144052020C>T | GRCh38 |
| NC_000008.10:g.145106921C>T , CM000670.1:g.145106921C>T | GRCh37 |
| NC_000008.9:g.145178909C>T | NCBI36 |
| NG_032671.1:g.13662G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000618853.5:c.3518G>A MANE Select | ENSP00000480476.1:p.Arg1173His | |
| ENST00000618853.4:c.3518G>A | ENSP00000480476.1:p.Arg1173His | |
| NM_017570.4:c.3518G>A | NP_060040.1:p.Arg1173His | |
| XM_011516960.1:c.3806G>A | XP_011515262.1:p.Arg1269His | |
| NM_017570.5:c.3518G>A MANE Select | NP_060040.1:p.Arg1173His |