Linked Data
ClinVar Variation Id:
1122729
ClinVar RCV Id:
RCV001453521
dbSNP Id:
rs1157219537
gnomAD v2:
2-220286229-C-T
gnomAD v4:
2-219421507-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421507C>T , CM000664.2:g.219421507C>T | GRCh38 |
| NC_000002.11:g.220286229C>T , CM000664.1:g.220286229C>T | GRCh37 |
| NC_000002.10:g.219994473C>T | NCBI36 |
| NG_008043.1:g.8131C>T , LRG_380:g.8131C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.665C>T | ||
| ENST00000683013.1:n.579C>T | ||
| ENST00000373960.4:c.1191C>T MANE Select | ENSP00000363071.3:p.Ala397= | |
| ENST00000373960.3:c.1191C>T | ENSP00000363071.3:p.Ala397= | |
| ENST00000477226.5:n.663C>T | ||
| ENST00000492726.1:n.586C>T | ||
| NM_001927.3:c.1191C>T , LRG_380t1:c.1191C>T | NP_001918.3:p.Ala397= | |
| NM_001927.4:c.1191C>T MANE Select | NP_001918.3:p.Ala397= | |
| NM_001382708.1:c.1188C>T | NP_001369637.1:p.Ala396= | |
| NM_001382709.1:c.759C>T | NP_001369638.1:p.Ala253= | |
| NM_001382710.1:c.1122C>T | NP_001369639.1:p.Ala374= | |
| NM_001382711.1:c.1170C>T | NP_001369640.1:p.Ala390= | |
| NM_001382712.1:c.1191C>T | NP_001369641.1:p.Ala397= | |
| NM_001382713.1:c.921C>T | NP_001369642.1:p.Ala307= |