Linked Data
dbSNP Id:
rs949140242
gnomAD v2:
16-20490888-G-T
gnomAD v3:
16-20479566-G-T
gnomAD v4:
16-20479566-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20479566G>T , CM000678.2:g.20479566G>T | GRCh38 |
| NC_000016.9:g.20490888G>T , CM000678.1:g.20490888G>T | GRCh37 |
| NC_000016.8:g.20398389G>T | NCBI36 |
| NG_054721.1:g.33106G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573854.6:c.1281+889G>T MANE Select | ENSP00000459451.1:n.1281+889G>T | |
| ENST00000219054.10:c.1281+889G>T | ENSP00000219054.6:n.1281+889G>T | |
| ENST00000396104.2:c.1281+889G>T | ENSP00000379411.2:n.1281+889G>T | |
| ENST00000417235.6:c.1044+889G>T | ENSP00000392169.2:n.1044+889G>T | |
| ENST00000570698.5:n.1456+889G>T | ||
| ENST00000572843.5:n.1476+889G>T | ||
| ENST00000573854.5:c.1281+889G>T | ENSP00000459451.1:n.1281+889G>T | |
| ENST00000575558.5:n.1210+889G>T | ||
| ENST00000575690.5:c.1281+889G>T | ENSP00000460349.1:n.1281+889G>T | |
| ENST00000576101.1:n.1033+889G>T | ||
| NM_001010845.2:c.1281+889G>T | NP_001010845.1:n.1281+889G>T | |
| NM_001308169.1:c.1044+889G>T | NP_001295098.1:n.1044+889G>T | |
| NM_001308172.1:c.1281+889G>T | NP_001295101.1:n.1281+889G>T | |
| NM_001308954.1:c.1281+889G>T | NP_001295883.1:n.1281+889G>T | |
| XR_243259.2:n.2281+889G>T | ||
| XM_017022923.1:c.1281+889G>T | XP_016878412.1:n.1281+889G>T | |
| XM_017022924.2:c.*492G>T | XP_016878413.1:n.*492G>T | |
| XM_017022925.1:c.1044+889G>T | XP_016878414.1:n.1044+889G>T | |
| XM_017022926.2:c.594+889G>T | XP_016878415.1:n.594+889G>T | |
| XR_001751834.2:n.2490+889G>T | ||
| NM_001308172.2:c.1281+889G>T MANE Select | NP_001295101.1:n.1281+889G>T | |
| NM_001308169.2:c.1044+889G>T | NP_001295098.1:n.1044+889G>T | |
| NM_001308954.2:c.1281+889G>T | NP_001295883.1:n.1281+889G>T |