Linked Data
dbSNP Id:
rs12063091
ExAC:
1:153313044 C / T
gnomAD v2:
1-153313044-C-T
gnomAD v3:
1-153340568-C-T
gnomAD v4:
1-153340568-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153340568C>T , CM000663.2:g.153340568C>T | GRCh38 |
| NC_000001.10:g.153313044C>T , CM000663.1:g.153313044C>T | GRCh37 |
| NC_000001.9:g.151579668C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359650.10:c.637G>A MANE Select | ENSP00000352672.5:p.Val213Ile | |
| ENST00000359650.9:c.637G>A | ENSP00000352672.5:p.Val213Ile | |
| ENST00000368739.3:c.625G>A | ENSP00000357728.3:p.Val209Ile | |
| NM_020393.3:c.637G>A | NP_065126.2:p.Val213Ile | |
| XM_011509789.1:c.637G>A | XP_011508091.1:p.Val213Ile | |
| XM_011509790.1:c.637G>A | XP_011508092.1:p.Val213Ile | |
| XM_011509791.1:c.625G>A | XP_011508093.1:p.Val209Ile | |
| XM_011509792.1:c.637G>A | XP_011508094.1:p.Val213Ile | |
| XM_011509793.1:c.133G>A | XP_011508095.1:p.Val45Ile | |
| XR_921896.1:n.997G>A | ||
| XR_921897.1:n.997G>A | ||
| XM_011509789.2:c.637G>A | XP_011508091.1:p.Val213Ile | |
| XM_011509791.2:c.625G>A | XP_011508093.1:p.Val209Ile | |
| XM_011509793.2:c.133G>A | XP_011508095.1:p.Val45Ile | |
| XR_001737322.1:n.997G>A | ||
| XR_921897.2:n.997G>A | ||
| NM_020393.4:c.637G>A MANE Select | NP_065126.2:p.Val213Ile |