Linked Data
ClinVar Variation Id:
1481128
dbSNP Id:
rs727502951
gnomAD v2:
2-220286227-G-T
gnomAD v3:
2-219421505-G-T
gnomAD v4:
2-219421505-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421505G>T , CM000664.2:g.219421505G>T | GRCh38 |
| NC_000002.11:g.220286227G>T , CM000664.1:g.220286227G>T | GRCh37 |
| NC_000002.10:g.219994471G>T | NCBI36 |
| NG_008043.1:g.8129G>T , LRG_380:g.8129G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.663G>T | ||
| ENST00000683013.1:n.577G>T | ||
| ENST00000373960.4:c.1189G>T MANE Select | ENSP00000363071.3:p.Ala397Ser | |
| ENST00000373960.3:c.1189G>T | ENSP00000363071.3:p.Ala397Ser | |
| ENST00000477226.5:n.661G>T | ||
| ENST00000492726.1:n.584G>T | ||
| NM_001927.3:c.1189G>T , LRG_380t1:c.1189G>T | NP_001918.3:p.Ala397Ser | |
| NM_001927.4:c.1189G>T MANE Select | NP_001918.3:p.Ala397Ser | |
| NM_001382708.1:c.1186G>T | NP_001369637.1:p.Ala396Ser | |
| NM_001382709.1:c.757G>T | NP_001369638.1:p.Ala253Ser | |
| NM_001382710.1:c.1120G>T | NP_001369639.1:p.Ala374Ser | |
| NM_001382711.1:c.1168G>T | NP_001369640.1:p.Ala390Ser | |
| NM_001382712.1:c.1189G>T | NP_001369641.1:p.Ala397Ser | |
| NM_001382713.1:c.919G>T | NP_001369642.1:p.Ala307Ser |