Linked Data
ClinVar Variation Id:
433516
ClinVar RCV Id:
RCV000499281
dbSNP Id:
rs1006994885
gnomAD v2:
16-16244434-C-A
gnomAD v3:
16-16150577-C-A
gnomAD v4:
16-16150577-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16150577C>A , CM000678.2:g.16150577C>A | GRCh38 |
| NC_000016.9:g.16244434C>A , CM000678.1:g.16244434C>A | GRCh37 |
| NC_000016.8:g.16151935C>A | NCBI36 |
| NG_007558.2:g.77895G>T | |
| NG_007558.3:g.78041G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.*575+1G>T | ENSP00000483331.2:n.*575+1G>T | |
| ENST00000205557.12:c.4403+1G>T MANE Select | ENSP00000205557.7:n.4403+1G>T | |
| ENST00000640696.1:c.1217+1G>T | ENSP00000492197.1:n.1217+1G>T | |
| ENST00000205557.11:c.4403+1G>T | ENSP00000205557.7:n.4403+1G>T | |
| ENST00000456970.6:c.4028+1G>T | ENSP00000405002.2:n.4028+1G>T | |
| ENST00000576204.5:n.1266+1G>T | ||
| ENST00000622290.4:c.*1612+1G>T | ENSP00000483331.1:n.*1612+1G>T | |
| NM_001171.5:c.4403+1G>T | NP_001162.4:n.4403+1G>T | |
| XM_011522479.1:c.4370+1G>T | XP_011520781.1:n.4370+1G>T | |
| XM_011522480.1:c.4061+1G>T | XP_011520782.1:n.4061+1G>T | |
| XM_011522481.1:c.4061+1G>T | XP_011520783.1:n.4061+1G>T | |
| XR_933134.1:n.538+6287C>A | ||
| NM_001351800.1:c.4061+1G>T | NP_001338729.1:n.4061+1G>T | |
| NR_147784.1:n.4065+1G>T | ||
| XM_011522479.2:c.4370+1G>T | XP_011520781.1:n.4370+1G>T | |
| XM_011522481.3:c.4061+1G>T | XP_011520783.1:n.4061+1G>T | |
| XM_017023212.1:c.4235+1G>T | XP_016878701.1:n.4235+1G>T | |
| XM_024450261.1:c.4439+1G>T | XP_024306029.1:n.4439+1G>T | |
| NM_001171.6:c.4403+1G>T MANE Select | NP_001162.5:n.4403+1G>T |