Linked Data
ClinVar Variation Id:
44270
dbSNP Id:
rs147327878
ExAC:
2:220285266 A / T
gnomAD v2:
2-220285266-A-T
gnomAD v3:
2-219420544-A-T
gnomAD v4:
2-219420544-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219420544A>T , CM000664.2:g.219420544A>T | GRCh38 |
| NC_000002.11:g.220285266A>T , CM000664.1:g.220285266A>T | GRCh37 |
| NC_000002.10:g.219993510A>T | NCBI36 |
| NG_008043.1:g.7168A>T , LRG_380:g.7168A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.259A>T | ||
| ENST00000683013.1:n.173A>T | ||
| ENST00000373960.4:c.785A>T MANE Select | ENSP00000363071.3:p.Glu262Val | |
| ENST00000373960.3:c.785A>T | ENSP00000363071.3:p.Glu262Val | |
| ENST00000477226.5:n.257A>T | ||
| ENST00000492726.1:n.180A>T | ||
| NM_001927.3:c.785A>T , LRG_380t1:c.785A>T | NP_001918.3:p.Glu262Val | |
| NM_001927.4:c.785A>T MANE Select | NP_001918.3:p.Glu262Val | |
| NM_001382708.1:c.782A>T | NP_001369637.1:p.Glu261Val | |
| NM_001382709.1:c.735+198A>T | NP_001369638.1:n.735+198A>T | |
| NM_001382710.1:c.785A>T | NP_001369639.1:p.Glu262Val | |
| NM_001382711.1:c.785A>T | NP_001369640.1:p.Glu262Val | |
| NM_001382712.1:c.785A>T | NP_001369641.1:p.Glu262Val | |
| NM_001382713.1:c.515A>T | NP_001369642.1:p.Glu172Val |