Linked Data
ClinVar Variation Id:
679143
ClinVar RCV Id:
RCV000838786
dbSNP Id:
rs2302762
gnomAD v2:
17-7358861-T-C
gnomAD v3:
17-7455542-T-C
gnomAD v4:
17-7455542-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7455542T>C , CM000679.2:g.7455542T>C | GRCh38 |
| NC_000017.10:g.7358861T>C , CM000679.1:g.7358861T>C | GRCh37 |
| NC_000017.9:g.7299585T>C | NCBI36 |
| NG_008026.1:g.15456T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306071.7:c.1217+86T>C MANE Select | ENSP00000304290.2:n.1217+86T>C | |
| ENST00000306071.6:c.1217+86T>C | ENSP00000304290.2:n.1217+86T>C | |
| ENST00000536404.6:c.1001+86T>C | ENSP00000439209.2:n.1001+86T>C | |
| ENST00000570557.5:c.880+86T>C | ||
| ENST00000573209.1:n.2247T>C | ||
| ENST00000576360.1:c.854+86T>C | ENSP00000459092.1:n.854+86T>C | |
| NM_000747.2:c.1217+86T>C | NP_000738.2:n.1217+86T>C | |
| NM_000747.3:c.1217+86T>C MANE Select | NP_000738.2:n.1217+86T>C |