Linked Data
ClinVar Variation Id:
2710619
ClinVar RCV Id:
RCV003595102
dbSNP Id:
rs2053519519
gnomAD v4:
16-3792101-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3792101C>A , CM000678.2:g.3792101C>A | GRCh38 |
| NC_000016.9:g.3842102C>A , CM000678.1:g.3842102C>A | GRCh37 |
| NC_000016.8:g.3782103C>A | NCBI36 |
| NG_009873.1:g.93020G>T | |
| NG_009873.2:g.93613G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.1217-7G>T MANE Select | ENSP00000262367.5:n.1217-7G>T | |
| ENST00000262367.9:c.1217-7G>T | ENSP00000262367.5:n.1217-7G>T | |
| ENST00000382070.7:c.1216+1285G>T | ENSP00000371502.3:n.1216+1285G>T | |
| NM_001079846.1:c.1216+1285G>T | NP_001073315.1:n.1216+1285G>T | |
| NM_004380.2:c.1217-7G>T | NP_004371.2:n.1217-7G>T | |
| XM_005255124.3:c.1217-7G>T | XP_005255181.1:n.1217-7G>T | |
| XM_005255125.3:c.1217-7G>T | XP_005255182.1:n.1217-7G>T | |
| XM_006720848.2:c.1217-7G>T | XP_006720911.1:n.1217-7G>T | |
| XM_011522380.1:c.1163-7G>T | XP_011520682.1:n.1163-7G>T | |
| XM_011522381.1:c.464-7G>T | XP_011520683.1:n.464-7G>T | |
| XM_011522382.1:c.1217-7G>T | XP_011520684.1:n.1217-7G>T | |
| XM_005255124.4:c.1217-7G>T | XP_005255181.1:n.1217-7G>T | |
| XM_005255125.4:c.1217-7G>T | XP_005255182.1:n.1217-7G>T | |
| XM_006720848.3:c.1217-7G>T | XP_006720911.1:n.1217-7G>T | |
| XM_011522381.2:c.464-7G>T | XP_011520683.1:n.464-7G>T | |
| XM_011522382.3:c.1217-7G>T | XP_011520684.1:n.1217-7G>T | |
| XM_017022944.1:c.1217-7G>T | XP_016878433.1:n.1217-7G>T | |
| NM_004380.3:c.1217-7G>T MANE Select | NP_004371.2:n.1217-7G>T |