Linked Data
ClinVar Variation Id:
7248
ClinVar RCV Id:
RCV000007670
dbSNP Id:
rs1050565
ExAC:
17:28576076 T / C
gnomAD v2:
17-28576076-T-C
gnomAD v3:
17-30249058-T-C
gnomAD v4:
17-30249058-T-C
PubMed:
PMID:8639621
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30249058T>C , CM000679.2:g.30249058T>C | GRCh38 |
| NC_000017.10:g.28576076T>C , CM000679.1:g.28576076T>C | GRCh37 |
| NC_000017.9:g.25600202T>C | NCBI36 |
| NG_011440.1:g.47999A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261714.11:c.1327A>G MANE Select | ENSP00000261714.6:p.Ile443Val | |
| ENST00000261714.10:c.1327A>G | ENSP00000261714.6:p.Ile443Val | |
| ENST00000578090.5:c.*1001A>G | ENSP00000462353.1:n.*1001A>G | |
| ENST00000578795.1:n.1226A>G | ||
| NM_000386.3:c.1327A>G | NP_000377.1:p.Ile443Val | |
| XR_934653.1:n.701-729T>C | ||
| XR_934655.1:n.701-3016T>C | ||
| NM_000386.4:c.1327A>G MANE Select | NP_000377.1:p.Ile443Val |