Linked Data
ClinVar Variation Id:
1052465
ClinVar RCV Id:
RCV001360658
dbSNP Id:
rs376947008
ExAC:
1:94506943 A / G
gnomAD v2:
1-94506943-A-G
gnomAD v3:
1-94041387-A-G
gnomAD v4:
1-94041387-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041387A>G , CM000663.2:g.94041387A>G | GRCh38 |
| NC_000001.10:g.94506943A>G , CM000663.1:g.94506943A>G | GRCh37 |
| NC_000001.9:g.94279531A>G | NCBI36 |
| NG_009073.1:g.84763T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3344T>C MANE Select | ENSP00000359245.3:p.Met1115Thr | |
| ENST00000370225.3:c.3344T>C | ENSP00000359245.3:p.Met1115Thr | |
| ENST00000536513.5:c.-64-1298T>C | ENSP00000439707.2:n.-64-1298T>C | |
| NM_000350.2:c.3344T>C | NP_000341.2:p.Met1115Thr | |
| NM_000350.3:c.3344T>C MANE Select | NP_000341.2:p.Met1115Thr |