Linked Data
ClinVar Variation Id:
380013
dbSNP Id:
rs79017058
ExAC:
11:125465905 G / T
gnomAD v2:
11-125465905-G-T
gnomAD v3:
11-125596010-G-T
gnomAD v4:
11-125596010-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.125596010G>T , CM000673.2:g.125596010G>T | GRCh38 |
| NC_000011.9:g.125465905G>T , CM000673.1:g.125465905G>T | GRCh37 |
| NC_000011.8:g.124971115G>T | NCBI36 |
| NG_042806.1:g.8216G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392708.9:c.88+7G>T MANE Select | ENSP00000376472.3:n.88+7G>T | |
| ENST00000649491.1:c.88+7G>T | ENSP00000497336.1:n.88+7G>T | |
| ENST00000392708.8:c.88+7G>T | ENSP00000376472.3:n.88+7G>T | |
| ENST00000525652.5:c.88+7G>T | ENSP00000435810.1:n.88+7G>T | |
| ENST00000527606.5:c.88+7G>T | ENSP00000436558.1:n.88+7G>T | |
| ENST00000529196.5:c.88+7G>T | ENSP00000436962.1:n.88+7G>T | |
| ENST00000529886.1:c.88+7G>T | ENSP00000432912.1:n.88+7G>T | |
| ENST00000531491.5:c.-188-1049G>T | ENSP00000432820.1:n.-188-1049G>T | |
| ENST00000534472.5:n.223+7G>T | ||
| NM_001278503.1:c.88+7G>T | NP_001265432.1:n.88+7G>T | |
| NM_001278504.1:c.-188-1049G>T | NP_001265433.1:n.-188-1049G>T | |
| NM_152713.4:c.88+7G>T | NP_689926.1:n.88+7G>T | |
| XM_011542807.1:c.88+7G>T | XP_011541109.1:n.88+7G>T | |
| XM_011542808.1:c.88+7G>T | XP_011541110.1:n.88+7G>T | |
| XM_011542807.3:c.88+7G>T | XP_011541109.1:n.88+7G>T | |
| XR_001747860.2:n.195+7G>T | ||
| NM_001278503.2:c.88+7G>T | NP_001265432.1:n.88+7G>T | |
| NM_001278504.2:c.-188-1049G>T | NP_001265433.1:n.-188-1049G>T | |
| NM_152713.5:c.88+7G>T MANE Select | NP_689926.1:n.88+7G>T |