Linked Data
dbSNP Id:
rs1006132508
gnomAD v2:
7-135330091-G-T
gnomAD v3:
7-135645343-G-T
gnomAD v4:
7-135645343-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.135645343G>T , CM000669.2:g.135645343G>T | GRCh38 |
| NC_000007.13:g.135330091G>T , CM000669.1:g.135330091G>T | GRCh37 |
| NC_000007.12:g.134980631G>T | NCBI36 |
| NG_051184.1:g.92430G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285968.11:c.5684-125G>T MANE Select | ENSP00000285968.6:n.5684-125G>T | |
| ENST00000285968.10:c.5684-125G>T | ENSP00000285968.6:n.5684-125G>T | |
| ENST00000461255.5:n.891-125G>T | ||
| ENST00000477620.5:c.1405+365G>T | ||
| ENST00000490439.1:c.120+325G>T | ||
| ENST00000607647.5:n.3962-125G>T | ||
| NM_015135.2:c.5684-125G>T | NP_055950.1:n.5684-125G>T | |
| XM_005250235.2:c.4610-125G>T | XP_005250292.1:n.4610-125G>T | |
| NM_001329434.1:c.4610-125G>T | NP_001316363.1:n.4610-125G>T | |
| NM_015135.3:c.5684-125G>T MANE Select | NP_055950.2:n.5684-125G>T | |
| NM_001329434.2:c.4610-125G>T | NP_001316363.2:n.4610-125G>T |