Linked Data
ClinVar Variation Id:
6560
dbSNP Id:
rs72664209
ExAC:
16:16267140 C / A
gnomAD v2:
16-16267140-C-A
gnomAD v3:
16-16173283-C-A
gnomAD v4:
16-16173283-C-A
MyVariant Identifiers:
chr16:g.16267140C>A (hg19)
chr16:g.16267140_16267144delinsACCTG (hg19)
chr16:g.16173283C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16173283C>A , CM000678.2:g.16173283C>A | GRCh38 |
| NC_000016.9:g.16267140C>A , CM000678.1:g.16267140C>A | GRCh37 |
| NC_000016.8:g.16174641C>A | NCBI36 |
| NG_007558.2:g.55189G>T | |
| NG_007558.3:g.55335G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2787+1G>T | ENSP00000483331.2:n.2787+1G>T | |
| ENST00000205557.12:c.2787+1G>T MANE Select | ENSP00000205557.7:n.2787+1G>T | |
| ENST00000205557.11:c.2787+1G>T | ENSP00000205557.7:n.2787+1G>T | |
| ENST00000456970.6:c.2612+1G>T | ENSP00000405002.2:n.2612+1G>T | |
| ENST00000576683.1:n.275G>T | ||
| ENST00000622290.4:c.2612+1G>T | ENSP00000483331.1:n.2612+1G>T | |
| NM_001171.5:c.2787+1G>T | NP_001162.4:n.2787+1G>T | |
| XM_011522479.1:c.2754+1G>T | XP_011520781.1:n.2754+1G>T | |
| XM_011522480.1:c.2445+1G>T | XP_011520782.1:n.2445+1G>T | |
| XM_011522481.1:c.2445+1G>T | XP_011520783.1:n.2445+1G>T | |
| XR_932836.1:n.3022+1G>T | ||
| XR_932837.1:n.3023+1G>T | ||
| XR_932838.1:n.3023+1G>T | ||
| NM_001351800.1:c.2445+1G>T | NP_001338729.1:n.2445+1G>T | |
| NR_147784.1:n.2649+1G>T | ||
| XM_011522479.2:c.2754+1G>T | XP_011520781.1:n.2754+1G>T | |
| XM_011522481.3:c.2445+1G>T | XP_011520783.1:n.2445+1G>T | |
| XM_017023212.1:c.2619+1G>T | XP_016878701.1:n.2619+1G>T | |
| XM_017023214.1:c.2787+1G>T | XP_016878703.1:n.2787+1G>T | |
| XM_024450261.1:c.2823+1G>T | XP_024306029.1:n.2823+1G>T | |
| XR_932836.2:n.2968+1G>T | ||
| XR_932837.3:n.2968+1G>T | ||
| XR_932838.3:n.2968+1G>T | ||
| NM_001171.6:c.2787+1G>T MANE Select | NP_001162.5:n.2787+1G>T |