Linked Data
ClinVar Variation Id:
791796
ClinVar RCV Id:
RCV000974843
dbSNP Id:
rs2229190
ExAC:
1:60381674 G / A
gnomAD v2:
1-60381674-G-A
gnomAD v3:
1-59916002-G-A
gnomAD v4:
1-59916002-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.59916002G>A , CM000663.2:g.59916002G>A | GRCh38 |
| NC_000001.10:g.60381674G>A , CM000663.1:g.60381674G>A | GRCh37 |
| NC_000001.9:g.60154262G>A | NCBI36 |
| NG_007931.1:g.15750C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371204.4:c.309C>T MANE Select | ENSP00000360247.3:p.His103= | |
| ENST00000468257.2:c.309C>T | ENSP00000497807.1:p.His103= | |
| ENST00000469406.6:c.*70C>T | ENSP00000497732.1:n.*70C>T | |
| ENST00000371204.3:c.309C>T | ENSP00000360247.3:p.His103= | |
| ENST00000466095.5:n.324C>T | ||
| ENST00000468257.1:n.334C>T | ||
| ENST00000469406.5:n.324C>T | ||
| NM_000775.2:c.309C>T | NP_000766.2:p.His103= | |
| XR_246240.2:n.336C>T | ||
| XR_946558.1:n.336C>T | ||
| XR_947429.1:n.1873+338G>A | ||
| NM_000775.3:c.309C>T | NP_000766.2:p.His103= | |
| NR_134981.1:n.361C>T | ||
| NR_134982.1:n.361C>T | ||
| NM_000775.4:c.309C>T MANE Select | NP_000766.2:p.His103= | |
| NR_134981.2:n.336C>T | ||
| NR_134982.2:n.336C>T |