Linked Data
dbSNP Id:
rs1277203
gnomAD v2:
1-109392837-C-T
gnomAD v3:
1-108850215-C-T
gnomAD v4:
1-108850215-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.108850215C>T , CM000663.2:g.108850215C>T | GRCh38 |
| NC_000001.10:g.109392837C>T , CM000663.1:g.109392837C>T | GRCh37 |
| NC_000001.9:g.109194360C>T | NCBI36 |
| NG_032762.1:g.13028G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357393.6:c.1-639G>A | ENSP00000349968.6:n.1-639G>A | |
| ENST00000370001.8:c.994-639G>A MANE Select | ENSP00000359018.3:n.994-639G>A | |
| ENST00000357393.5:c.115-639G>A | ENSP00000349968.5:n.115-639G>A | |
| ENST00000369994.5:c.994-639G>A | ENSP00000359011.1:n.994-639G>A | |
| ENST00000369995.7:c.994-639G>A | ENSP00000359012.3:n.994-639G>A | |
| ENST00000370001.7:c.994-639G>A | ENSP00000359018.3:n.994-639G>A | |
| ENST00000461774.5:c.994-639G>A | ENSP00000433889.1:n.994-639G>A | |
| ENST00000472781.2:c.994-639G>A | ENSP00000432262.1:n.994-639G>A | |
| ENST00000474186.5:c.994-639G>A | ENSP00000436835.1:n.994-639G>A | |
| NM_152763.4:c.994-639G>A | NP_689976.2:n.994-639G>A | |
| NR_049760.1:n.1414-639G>A | ||
| NM_152763.5:c.994-639G>A MANE Select | NP_689976.2:n.994-639G>A | |
| NR_049760.2:n.1416-639G>A |