Linked Data
ClinVar Variation Id:
99440
ClinVar RCV Id:
RCV000085799
RCV000178562
RCV000289405
RCV000329139
RCV000344433
RCV000383722
RCV001101662
RCV002498459
RCV003888480
dbSNP Id:
rs1801359
ExAC:
1:94467447 G / A
gnomAD v2:
1-94467447-G-A
gnomAD v3:
1-94001891-G-A
gnomAD v4:
1-94001891-G-A
PubMed:
PMID:19365591
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001891G>A , CM000663.2:g.94001891G>A | GRCh38 |
| NC_000001.10:g.94467447G>A , CM000663.1:g.94467447G>A | GRCh37 |
| NC_000001.9:g.94240035G>A | NCBI36 |
| NG_009073.1:g.124259C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.6249C>T MANE Select | ENSP00000359245.3:p.Ile2083= | |
| ENST00000370225.3:c.6249C>T | ENSP00000359245.3:p.Ile2083= | |
| ENST00000465352.1:n.665C>T | ||
| ENST00000536513.5:c.2625C>T | ENSP00000439707.2:p.Ile875= | |
| NM_000350.2:c.6249C>T | NP_000341.2:p.Ile2083= | |
| NM_000350.3:c.6249C>T MANE Select | NP_000341.2:p.Ile2083= |