Linked Data
dbSNP Id:
rs766876628
ExAC:
1:169521980 T / TA
gnomAD v2:
1-169521980-T-TA
gnomAD v3:
1-169552742-T-TA
gnomAD v4:
1-169552742-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169552742_169552743insA , CM000663.2:g.169552742_169552743insA | GRCh38 |
| NC_000001.10:g.169521980_169521981insA , CM000663.1:g.169521980_169521981insA | GRCh37 |
| NC_000001.9:g.167788604_167788605insA | NCBI36 |
| NG_011806.1:g.38789_38790insT , LRG_553:g.38789_38790insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.1119-9_1119-8insT MANE Select | ENSP00000356771.3:n.1119-9_1119-8insT | |
| ENST00000367796.3:c.1119-9_1119-8insT | ENSP00000356770.3:n.1119-9_1119-8insT | |
| ENST00000367797.7:c.1119-9_1119-8insT | ENSP00000356771.3:n.1119-9_1119-8insT | |
| NM_000130.4:c.1119-9_1119-8insT , LRG_553t1:c.1119-9_1119-8insT | NP_000121.2:n.1119-9_1119-8insT | |
| XM_017000660.2:c.708-9_708-8insT | XP_016856149.1:n.708-9_708-8insT | |
| NM_000130.5:c.1119-9_1119-8insT MANE Select | NP_000121.2:n.1119-9_1119-8insT |