Linked Data
dbSNP Id:
rs769690900
ExAC:
2:174230982 T / TG
gnomAD v2:
2-174230982-T-TG
gnomAD v3:
2-173366254-T-TG
gnomAD v4:
2-173366254-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.173366255dup , CM000664.2:g.173366255dup | GRCh38 |
| NC_000002.11:g.174230983dup , CM000664.1:g.174230983dup | GRCh37 |
| NC_000002.10:g.173939229dup | NCBI36 |
| NG_047202.1:g.17239dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695901.1:c.798+663dup | ENSP00000512251.1:n.798+663dup | |
| ENST00000695911.1:c.814-28dup | ENSP00000512262.1:n.814-28dup | |
| ENST00000695912.1:c.1033-28dup | ENSP00000512263.1:n.1033-28dup | |
| ENST00000695913.1:c.*1761dup | ENSP00000512264.1:n.*1761dup | |
| ENST00000695914.1:c.796-28dup | ENSP00000512265.1:n.796-28dup | |
| ENST00000695918.1:n.264-28dup | ||
| ENST00000306721.8:c.1036-28dup MANE Select | ENSP00000306968.3:n.1036-28dup | |
| ENST00000306721.7:c.1036-28dup | ENSP00000306968.3:n.1036-28dup | |
| ENST00000347703.7:c.799-28dup | ENSP00000272789.4:n.799-28dup | |
| ENST00000410019.3:c.673-28dup | ENSP00000386833.3:n.673-28dup | |
| ENST00000410101.7:c.904-28dup | ENSP00000386656.3:n.904-28dup | |
| ENST00000467411.5:n.1768+663dup | ||
| ENST00000496441.5:n.1790-28dup | ||
| NM_031942.4:c.1036-28dup | NP_114148.3:n.1036-28dup | |
| NM_145810.2:c.799-28dup | NP_665809.1:n.799-28dup | |
| XM_011511957.1:c.955-28dup | XP_011510259.1:n.955-28dup | |
| XR_923034.1:n.1934-28dup | ||
| NM_031942.5:c.1036-28dup MANE Select | NP_114148.3:n.1036-28dup | |
| NM_145810.3:c.799-28dup | NP_665809.1:n.799-28dup |