Linked Data
ClinVar Variation Id:
225317
dbSNP Id:
rs142433421
ExAC:
7:106888868 A / G
gnomAD v2:
7-106888868-A-G
gnomAD v3:
7-107248423-A-G
gnomAD v4:
7-107248423-A-G
PubMed:
PMID:23430875
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107248423A>G , CM000669.2:g.107248423A>G | GRCh38 |
| NC_000007.13:g.106888868A>G , CM000669.1:g.106888868A>G | GRCh37 |
| NC_000007.12:g.106676104A>G | NCBI36 |
| NG_028095.1:g.321092T>C | |
| NG_028095.2:g.321092T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297135.9:c.1826T>C MANE Select | ENSP00000297135.4:p.Ile609Thr | |
| ENST00000347053.8:c.1763T>C | ENSP00000334703.3:p.Ile588Thr | |
| ENST00000393603.7:c.1826T>C | ENSP00000377228.3:p.Ile609Thr | |
| ENST00000297135.7:c.1919T>C | ENSP00000297135.3:p.Ile640Thr | |
| ENST00000347053.7:c.1856T>C | ENSP00000334703.2:p.Ile619Thr | |
| ENST00000393603.6:c.1919T>C | ENSP00000377228.2:p.Ile640Thr | |
| ENST00000462342.1:n.517T>C | ||
| ENST00000464542.5:n.277T>C | ||
| ENST00000468350.5:n.421T>C | ||
| NM_001161520.1:c.1919T>C | NP_001154992.1:p.Ile640Thr | |
| NM_006348.3:c.1919T>C | NP_006339.3:p.Ile640Thr | |
| NM_181733.2:c.1856T>C | NP_859422.2:p.Ile619Thr | |
| NM_001161520.2:c.1826T>C | NP_001154992.2:p.Ile609Thr | |
| NM_006348.4:c.1826T>C | NP_006339.4:p.Ile609Thr | |
| NM_181733.3:c.1763T>C | NP_859422.3:p.Ile588Thr | |
| NM_001379511.1:c.1664T>C | NP_001366440.1:p.Ile555Thr | |
| NM_001379512.1:c.1652T>C | NP_001366441.1:p.Ile551Thr | |
| NM_001379513.1:c.1826T>C | NP_001366442.1:p.Ile609Thr | |
| NM_001379514.1:c.1826T>C | NP_001366443.1:p.Ile609Thr | |
| NM_001379515.1:c.1256T>C | NP_001366444.1:p.Ile419Thr | |
| NM_001379516.1:c.1112T>C | NP_001366445.1:p.Ile371Thr | |
| NM_006348.5:c.1826T>C MANE Select | NP_006339.4:p.Ile609Thr | |
| NM_181733.4:c.1763T>C | NP_859422.3:p.Ile588Thr |