Linked Data
dbSNP Id:
rs1394678
gnomAD v2:
16-20491058-C-T
gnomAD v3:
16-20479736-C-T
gnomAD v4:
16-20479736-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20479736C>T , CM000678.2:g.20479736C>T | GRCh38 |
| NC_000016.9:g.20491058C>T , CM000678.1:g.20491058C>T | GRCh37 |
| NC_000016.8:g.20398559C>T | NCBI36 |
| NG_054721.1:g.33276C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000573854.6:c.1282-837C>T MANE Select | ENSP00000459451.1:n.1282-837C>T | |
| ENST00000219054.10:c.1282-837C>T | ENSP00000219054.6:n.1282-837C>T | |
| ENST00000396104.2:c.1282-837C>T | ENSP00000379411.2:n.1282-837C>T | |
| ENST00000417235.6:c.1045-837C>T | ENSP00000392169.2:n.1045-837C>T | |
| ENST00000570698.5:n.1457-837C>T | ||
| ENST00000572843.5:n.1477-837C>T | ||
| ENST00000573854.5:c.1282-837C>T | ENSP00000459451.1:n.1282-837C>T | |
| ENST00000575558.5:n.1211-837C>T | ||
| ENST00000575690.5:c.1282-837C>T | ENSP00000460349.1:n.1282-837C>T | |
| ENST00000576101.1:n.1034-837C>T | ||
| NM_001010845.2:c.1282-837C>T | NP_001010845.1:n.1282-837C>T | |
| NM_001308169.1:c.1045-837C>T | NP_001295098.1:n.1045-837C>T | |
| NM_001308172.1:c.1282-837C>T | NP_001295101.1:n.1282-837C>T | |
| NM_001308954.1:c.1282-837C>T | NP_001295883.1:n.1282-837C>T | |
| XR_243259.2:n.2282-837C>T | ||
| XM_017022923.1:c.1282-837C>T | XP_016878412.1:n.1282-837C>T | |
| XM_017022924.2:c.*662C>T | XP_016878413.1:n.*662C>T | |
| XM_017022925.1:c.1045-837C>T | XP_016878414.1:n.1045-837C>T | |
| XM_017022926.2:c.595-837C>T | XP_016878415.1:n.595-837C>T | |
| XR_001751834.2:n.2491-837C>T | ||
| NM_001308172.2:c.1282-837C>T MANE Select | NP_001295101.1:n.1282-837C>T | |
| NM_001308169.2:c.1045-837C>T | NP_001295098.1:n.1045-837C>T | |
| NM_001308954.2:c.1282-837C>T | NP_001295883.1:n.1282-837C>T |