Linked Data
ClinVar Variation Id:
2227772
ClinVar RCV Id:
RCV002727829
dbSNP Id:
rs1463520757
gnomAD v2:
19-36398438-C-T
gnomAD v3:
19-35907536-C-T
gnomAD v4:
19-35907536-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35907536C>T , CM000681.2:g.35907536C>T | GRCh38 |
| NC_000019.9:g.36398438C>T , CM000681.1:g.36398438C>T | GRCh37 |
| NC_000019.8:g.41090278C>T | NCBI36 |
| NG_009304.1:g.5749G>A , LRG_607:g.5749G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262629.9:c.139G>A MANE Select | ENSP00000262629.3:p.Val47Met | |
| ENST00000262629.8:c.139G>A | ENSP00000262629.3:p.Val47Met | |
| ENST00000424586.7:c.106G>A | ENSP00000402371.3:p.Val36Met | |
| ENST00000544690.6:c.106G>A | ENSP00000445332.1:p.Val36Met | |
| ENST00000585626.1:n.206G>A | ||
| ENST00000585901.6:c.139G>A | ENSP00000468608.1:p.Val47Met | |
| ENST00000586946.1:c.*24G>A | ENSP00000465656.1:n.*24G>A | |
| ENST00000587837.5:c.*24G>A | ENSP00000465081.1:n.*24G>A | |
| ENST00000588439.1:n.283G>A | ||
| ENST00000589517.1:c.139G>A | ENSP00000468447.1:p.Val47Met | |
| NM_001173514.1:c.106G>A | NP_001166985.1:p.Val36Met | |
| NM_001173515.1:c.106G>A | NP_001166986.1:p.Val36Met | |
| NM_003332.3:c.139G>A , LRG_607t1:c.139G>A | NP_003323.1:p.Val47Met | |
| NM_198125.2:c.139G>A | NP_937758.1:p.Val47Met | |
| NR_033390.1:n.180G>A | ||
| NM_001173514.2:c.106G>A | NP_001166985.1:p.Val36Met | |
| NM_001173515.2:c.106G>A | NP_001166986.1:p.Val36Met | |
| NM_003332.4:c.139G>A MANE Select | NP_003323.1:p.Val47Met | |
| NM_198125.3:c.139G>A | NP_937758.1:p.Val47Met | |
| NR_033390.2:n.166G>A |