Linked Data
dbSNP Id:
rs989717226
gnomAD v2:
22-19945470-C-T
gnomAD v3:
22-19957947-C-T
gnomAD v4:
22-19957947-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19957947C>T , CM000684.2:g.19957947C>T | GRCh38 |
| NC_000022.10:g.19945470C>T , CM000684.1:g.19945470C>T | GRCh37 |
| NC_000022.9:g.18325470C>T | NCBI36 |
| NG_011526.1:g.21208C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361682.11:c.-91-3252C>T MANE Select | ENSP00000354511.6:n.-91-3252C>T | |
| ENST00000428707.2:c.-91-3252C>T | ENSP00000387695.2:n.-91-3252C>T | |
| ENST00000676678.1:c.-91-3252C>T | ENSP00000503719.1:n.-91-3252C>T | |
| ENST00000678255.1:c.-921-3252C>T | ENSP00000504402.1:n.-921-3252C>T | |
| ENST00000678769.1:c.-91-3252C>T | ENSP00000503289.1:n.-91-3252C>T | |
| ENST00000678868.1:c.-91-3252C>T | ENSP00000503583.1:n.-91-3252C>T | |
| ENST00000207636.9:c.-91-3252C>T | ENSP00000207636.5:n.-91-3252C>T | |
| ENST00000361682.10:c.-91-3252C>T | ENSP00000354511.6:n.-91-3252C>T | |
| ENST00000403184.5:c.-91-3252C>T | ENSP00000383966.1:n.-91-3252C>T | |
| ENST00000403710.5:c.-385-3252C>T | ENSP00000385917.1:n.-385-3252C>T | |
| ENST00000406520.7:c.-91-3252C>T | ENSP00000385150.3:n.-91-3252C>T | |
| ENST00000407537.5:c.-269-3252C>T | ENSP00000384654.2:n.-269-3252C>T | |
| ENST00000412786.5:c.-91-3252C>T | ENSP00000403958.1:n.-91-3252C>T | |
| ENST00000467943.5:n.106-3252C>T | ||
| NM_000754.3:c.-91-3252C>T | NP_000745.1:n.-91-3252C>T | |
| NM_001135161.1:c.-91-3252C>T | NP_001128633.1:n.-91-3252C>T | |
| NM_001135162.1:c.-91-3252C>T | NP_001128634.1:n.-91-3252C>T | |
| XM_011529885.1:c.-38C>T | XP_011528187.1:n.-38C>T | |
| XM_011529886.1:c.-38C>T | XP_011528188.1:n.-38C>T | |
| XM_011529887.1:c.-91-3252C>T | XP_011528189.1:n.-91-3252C>T | |
| XM_011529888.1:c.-91-3252C>T | XP_011528190.1:n.-91-3252C>T | |
| XM_011529889.1:c.-91-3252C>T | XP_011528191.1:n.-91-3252C>T | |
| XM_011529890.1:c.-385-3252C>T | XP_011528192.1:n.-385-3252C>T | |
| XM_011529891.1:c.-385-3252C>T | XP_011528193.1:n.-385-3252C>T | |
| NM_001362828.1:c.-385-3252C>T | NP_001349757.1:n.-385-3252C>T | |
| XM_011529886.2:c.260C>T | XP_011528188.2:p.Thr87Met | |
| XM_017028595.1:c.-385-3252C>T | XP_016884084.1:n.-385-3252C>T | |
| NM_000754.4:c.-91-3252C>T MANE Select | NP_000745.1:n.-91-3252C>T | |
| NM_001135161.2:c.-91-3252C>T | NP_001128633.1:n.-91-3252C>T | |
| NM_001135162.2:c.-91-3252C>T | NP_001128634.1:n.-91-3252C>T | |
| NM_001362828.2:c.-385-3252C>T | NP_001349757.1:n.-385-3252C>T |