Linked Data
ClinVar Variation Id:
1057994
ClinVar RCV Id:
RCV001367077
dbSNP Id:
rs550312355
ExAC:
9:95481230 C / T
gnomAD v2:
9-95481230-C-T
gnomAD v3:
9-92718948-C-T
gnomAD v4:
9-92718948-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92718948C>T , CM000671.2:g.92718948C>T | GRCh38 |
| NC_000009.11:g.95481230C>T , CM000671.1:g.95481230C>T | GRCh37 |
| NC_000009.10:g.94521051C>T | NCBI36 |
| NG_033908.1:g.50854G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356884.11:c.1697G>A MANE Select | ENSP00000349351.6:p.Arg566His | |
| ENST00000356884.10:c.1697G>A | ENSP00000349351.6:p.Arg566His | |
| ENST00000375512.3:c.1697G>A | ENSP00000364662.3:p.Arg566His | |
| NM_001003800.1:c.1697G>A | NP_001003800.1:p.Arg566His | |
| NM_015250.3:c.1697G>A | NP_056065.1:p.Arg566His | |
| XM_017014551.1:c.1778G>A | XP_016870040.1:p.Arg593His | |
| NM_001003800.2:c.1697G>A MANE Select | NP_001003800.1:p.Arg566His | |
| NM_015250.4:c.1697G>A | NP_056065.1:p.Arg566His |