Linked Data
ClinVar Variation Id:
260539
dbSNP Id:
rs143660882
ExAC:
16:49823385 C / T
gnomAD v2:
16-49823385-C-T
gnomAD v3:
16-49789474-C-T
gnomAD v4:
16-49789474-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.49789474C>T , CM000678.2:g.49789474C>T | GRCh38 |
| NC_000016.9:g.49823385C>T , CM000678.1:g.49823385C>T | GRCh37 |
| NC_000016.8:g.48380886C>T | NCBI36 |
| NG_032972.1:g.73446G>A | |
| NG_032972.2:g.73446G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563137.7:c.100+13G>A MANE Select | ENSP00000455588.3:n.100+13G>A | |
| ENST00000262383.6:c.76+13G>A | ENSP00000262383.2:n.76+13G>A | |
| ENST00000561648.5:c.76+13G>A | ENSP00000455426.1:n.76+13G>A | |
| ENST00000562520.1:c.-105+13G>A | ENSP00000457664.1:n.-105+13G>A | |
| ENST00000563137.6:c.-105+13G>A | ENSP00000455588.2:n.-105+13G>A | |
| ENST00000568094.2:c.60+13G>A | ||
| NM_001271620.1:c.-105+13G>A | NP_001258549.1:n.-105+13G>A | |
| NM_015069.3:c.76+13G>A | NP_055884.2:n.76+13G>A | |
| XM_006721171.2:c.121+13G>A | XP_006721234.1:n.121+13G>A | |
| XM_011522962.1:c.169+13G>A | XP_011521264.1:n.169+13G>A | |
| NM_001271620.2:c.-105+13G>A | NP_001258549.1:n.-105+13G>A | |
| NM_015069.4:c.76+13G>A | NP_055884.2:n.76+13G>A | |
| XM_006721171.4:c.121+13G>A | XP_006721234.1:n.121+13G>A | |
| XM_017023076.2:c.100+13G>A | XP_016878565.1:n.100+13G>A | |
| XM_017023077.1:c.-269+13G>A | XP_016878566.1:n.-269+13G>A | |
| NM_001379286.1:c.100+13G>A MANE Select | NP_001366215.1:n.100+13G>A | |
| NM_015069.5:c.76+13G>A | NP_055884.2:n.76+13G>A |