Linked Data
dbSNP Id:
rs10277664
gnomAD v2:
7-139506580-C-T
gnomAD v3:
7-139806781-C-T
gnomAD v4:
7-139806781-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.139806781C>T , CM000669.2:g.139806781C>T | GRCh38 |
| NC_000007.13:g.139506580C>T , CM000669.1:g.139506580C>T | GRCh37 |
| NC_000007.12:g.139153049C>T | NCBI36 |
| NG_008422.2:g.33400C>T , LRG_579:g.33400C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336425.10:c.-80+19355C>T | ENSP00000338087.7:n.-80+19355C>T | |
| ENST00000438104.6:c.-80+19355C>T | ENSP00000388612.3:n.-80+19355C>T | |
| ENST00000650822.1:c.-77+19355C>T | ENSP00000498517.1:n.-77+19355C>T | |
| ENST00000263552.10:c.-77+19355C>T | ENSP00000263552.6:n.-77+19355C>T | |
| ENST00000336425.9:c.-80+19355C>T | ENSP00000338087.5:n.-80+19355C>T | |
| ENST00000416849.6:c.-77+19355C>T | ENSP00000389414.2:n.-77+19355C>T | |
| ENST00000425687.5:c.-113+19355C>T | ENSP00000388736.1:n.-113+19355C>T | |
| ENST00000438104.5:c.-80+19355C>T | ENSP00000388612.1:n.-80+19355C>T | |
| NM_001130966.2:c.-77+19355C>T , LRG_579t1:c.-77+19355C>T | NP_001124438.1:n.-77+19355C>T | |
| NM_001166254.1:c.-113+19355C>T , LRG_579t3:c.-113+19355C>T | NP_001159726.1:n.-113+19355C>T | |
| NM_001130966.3:c.-80+19355C>T | NP_001124438.2:n.-80+19355C>T | |
| NM_001166254.2:c.-113+19355C>T | NP_001159726.1:n.-113+19355C>T | |
| NM_001130966.4:c.-80+19355C>T | NP_001124438.2:n.-80+19355C>T | |
| NM_001166254.3:c.-113+19355C>T | NP_001159726.1:n.-113+19355C>T | |
| NM_001130966.5:c.-80+19355C>T | NP_001124438.2:n.-80+19355C>T | |
| NM_001166254.4:c.-113+19355C>T | NP_001159726.1:n.-113+19355C>T |