Linked Data
ClinVar Variation Id:
1666031
ClinVar RCV Id:
RCV002184261
dbSNP Id:
rs1175419062
gnomAD v3:
16-16169629-G-A
gnomAD v4:
16-16169629-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16169629G>A , CM000678.2:g.16169629G>A | GRCh38 |
| NC_000016.9:g.16263486G>A , CM000678.1:g.16263486G>A | GRCh37 |
| NC_000016.8:g.16170987G>A | NCBI36 |
| NG_007558.2:g.58843C>T | |
| NG_007558.3:g.58989C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2995+17C>T | ENSP00000483331.2:n.2995+17C>T | |
| ENST00000205557.12:c.2995+17C>T MANE Select | ENSP00000205557.7:n.2995+17C>T | |
| ENST00000205557.11:c.2995+17C>T | ENSP00000205557.7:n.2995+17C>T | |
| ENST00000456970.6:c.2820+17C>T | ENSP00000405002.2:n.2820+17C>T | |
| ENST00000622290.4:c.*204+17C>T | ENSP00000483331.1:n.*204+17C>T | |
| NM_001171.5:c.2995+17C>T | NP_001162.4:n.2995+17C>T | |
| XM_011522479.1:c.2962+17C>T | XP_011520781.1:n.2962+17C>T | |
| XM_011522480.1:c.2653+17C>T | XP_011520782.1:n.2653+17C>T | |
| XM_011522481.1:c.2653+17C>T | XP_011520783.1:n.2653+17C>T | |
| XR_932836.1:n.3230+17C>T | ||
| XR_932837.1:n.3231+17C>T | ||
| XR_932838.1:n.3231+17C>T | ||
| NM_001351800.1:c.2653+17C>T | NP_001338729.1:n.2653+17C>T | |
| NR_147784.1:n.2857+17C>T | ||
| XM_011522479.2:c.2962+17C>T | XP_011520781.1:n.2962+17C>T | |
| XM_011522481.3:c.2653+17C>T | XP_011520783.1:n.2653+17C>T | |
| XM_017023212.1:c.2827+17C>T | XP_016878701.1:n.2827+17C>T | |
| XM_017023214.1:c.2995+17C>T | XP_016878703.1:n.2995+17C>T | |
| XM_024450261.1:c.3031+17C>T | XP_024306029.1:n.3031+17C>T | |
| XR_932836.2:n.3176+17C>T | ||
| XR_932837.3:n.3176+17C>T | ||
| XR_932838.3:n.3176+17C>T | ||
| NM_001171.6:c.2995+17C>T MANE Select | NP_001162.5:n.2995+17C>T |