Linked Data
dbSNP Id:
rs112394823
ExAC:
1:153963285 G / T
gnomAD v2:
1-153963285-G-T
gnomAD v3:
1-153990809-G-T
gnomAD v4:
1-153990809-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153990809G>T , CM000663.2:g.153990809G>T | GRCh38 |
| NC_000001.10:g.153963285G>T , CM000663.1:g.153963285G>T | GRCh37 |
| NC_000001.9:g.152229909G>T | NCBI36 |
| NG_053102.2:g.5055G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643794.1:c.6+7G>T | ENSP00000495765.1:n.6+7G>T | |
| ENST00000651669.1:c.6+7G>T MANE Select | ENSP00000499044.1:n.6+7G>T | |
| ENST00000368567.4:c.6+7G>T | ENSP00000357555.4:n.6+7G>T | |
| ENST00000392558.4:c.6+7G>T | ENSP00000376341.4:n.6+7G>T | |
| ENST00000477151.1:n.40+7G>T | ||
| ENST00000493224.5:n.47G>T | ||
| NM_001030.4:c.6+7G>T | NP_001021.1:n.6+7G>T | |
| NM_001030.6:c.6+7G>T MANE Select | NP_001021.1:n.6+7G>T | |
| NM_001349946.1:c.-212+7G>T | NP_001336875.1:n.-212+7G>T | |
| NM_001349947.1:c.-316G>T | NP_001336876.1:n.-316G>T | |
| NM_001349946.2:c.-212+7G>T | NP_001336875.1:n.-212+7G>T | |
| NM_001349947.2:c.-316G>T | NP_001336876.1:n.-316G>T |