Linked Data
dbSNP Id:
rs35777291
gnomAD v2:
22-19937649-A-T
gnomAD v3:
22-19950126-A-T
gnomAD v4:
22-19950126-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19950126A>T , CM000684.2:g.19950126A>T | GRCh38 |
| NC_000022.10:g.19937649A>T , CM000684.1:g.19937649A>T | GRCh37 |
| NC_000022.9:g.18317649A>T | NCBI36 |
| NG_011526.1:g.13387A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361682.11:c.-92+8229A>T MANE Select | ENSP00000354511.6:n.-92+8229A>T | |
| ENST00000428707.2:c.-92+8229A>T | ENSP00000387695.2:n.-92+8229A>T | |
| ENST00000676678.1:c.-92+8551A>T | ENSP00000503719.1:n.-92+8551A>T | |
| ENST00000678769.1:c.-92+8229A>T | ENSP00000503289.1:n.-92+8229A>T | |
| ENST00000678868.1:c.-92+2636A>T | ENSP00000503583.1:n.-92+2636A>T | |
| ENST00000361682.10:c.-92+8229A>T | ENSP00000354511.6:n.-92+8229A>T | |
| ENST00000403184.5:c.-92+8229A>T | ENSP00000383966.1:n.-92+8229A>T | |
| ENST00000403710.5:c.-386+8229A>T | ENSP00000385917.1:n.-386+8229A>T | |
| ENST00000407537.5:c.-270+8229A>T | ENSP00000384654.2:n.-270+8229A>T | |
| ENST00000467943.5:n.105+8229A>T | ||
| NM_000754.3:c.-92+8229A>T | NP_000745.1:n.-92+8229A>T | |
| XM_011529887.1:c.-92+8229A>T | XP_011528189.1:n.-92+8229A>T | |
| XM_011529890.1:c.-386+8229A>T | XP_011528192.1:n.-386+8229A>T | |
| XM_011529891.1:c.-386+7951A>T | XP_011528193.1:n.-386+7951A>T | |
| NM_001362828.1:c.-386+8229A>T | NP_001349757.1:n.-386+8229A>T | |
| XM_017028595.1:c.-386+7951A>T | XP_016884084.1:n.-386+7951A>T | |
| NM_000754.4:c.-92+8229A>T MANE Select | NP_000745.1:n.-92+8229A>T | |
| NM_001362828.2:c.-386+8229A>T | NP_001349757.1:n.-386+8229A>T |