Linked Data
ClinVar Variation Id:
294657
dbSNP Id:
rs780727023
ExAC:
1:197115375 G / T
gnomAD v2:
1-197115375-G-T
gnomAD v3:
1-197146245-G-T
gnomAD v4:
1-197146245-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197146245G>T , CM000663.2:g.197146245G>T | GRCh38 |
| NC_000001.10:g.197115375G>T , CM000663.1:g.197115375G>T | GRCh37 |
| NC_000001.9:g.195381998G>T | NCBI36 |
| NG_015867.1:g.5450C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367409.9:c.193C>A MANE Select | ENSP00000356379.4:p.Leu65Met | |
| ENST00000679766.1:n.410C>A | ||
| ENST00000680265.1:c.193C>A | ENSP00000505384.1:p.Leu65Met | |
| ENST00000680710.1:c.193C>A | ENSP00000506676.1:p.Leu65Met | |
| ENST00000681879.1:c.193C>A | ENSP00000505363.1:p.Leu65Met | |
| ENST00000294732.11:c.193C>A | ENSP00000294732.7:p.Leu65Met | |
| ENST00000367409.8:c.193C>A | ENSP00000356379.4:p.Leu65Met | |
| ENST00000612785.1:c.193C>A | ENSP00000479244.1:p.Leu65Met | |
| NM_001206846.1:c.193C>A | NP_001193775.1:p.Leu65Met | |
| NM_018136.4:c.193C>A | NP_060606.3:p.Leu65Met | |
| NM_018136.5:c.193C>A MANE Select | NP_060606.3:p.Leu65Met | |
| NM_001206846.2:c.193C>A | NP_001193775.1:p.Leu65Met |