Linked Data
ClinVar Variation Id:
325953
ClinVar RCV Id:
RCV000270550
dbSNP Id:
rs75448808
gnomAD v2:
17-7999858-G-A
gnomAD v3:
17-8096540-G-A
gnomAD v4:
17-8096540-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8096540G>A , CM000679.2:g.8096540G>A | GRCh38 |
| NC_000017.10:g.7999858G>A , CM000679.1:g.7999858G>A | GRCh37 |
| NC_000017.9:g.7940583G>A | NCBI36 |
| NG_015807.1:g.27377C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318227.4:c.*87C>T | ENSP00000314879.4:n.*87C>T | |
| ENST00000380149.6:c.*87C>T | ENSP00000369494.2:n.*87C>T | |
| ENST00000448843.7:c.*87C>T MANE Select | ENSP00000400581.2:n.*87C>T | |
| ENST00000318227.3:c.*87C>T | ENSP00000314879.3:n.*87C>T | |
| ENST00000380149.5:c.*87C>T | ENSP00000369494.1:n.*87C>T | |
| ENST00000448843.6:c.*87C>T | ENSP00000400581.2:n.*87C>T | |
| ENST00000583808.1:n.460C>T | ||
| NM_001165960.1:c.*87C>T | NP_001159432.1:n.*87C>T | |
| NM_021628.2:c.*87C>T | NP_067641.2:n.*87C>T | |
| XR_001752579.2:n.2374C>T | ||
| NM_001369446.1:c.*87C>T | NP_001356375.1:n.*87C>T | |
| NM_021628.3:c.*87C>T MANE Select | NP_067641.2:n.*87C>T |