Linked Data
dbSNP Id:
rs759162791
ExAC:
2:29293690 T / TGG
gnomAD v2:
2-29293690-T-TGG
gnomAD v4:
2-29070824-T-TGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29070825_29070826dup , CM000664.2:g.29070825_29070826dup | GRCh38 |
| NC_000002.11:g.29293691_29293692dup , CM000664.1:g.29293691_29293692dup | GRCh37 |
| NC_000002.10:g.29147195_29147196dup | NCBI36 |
| NG_021427.1:g.8436_8437dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3436_3437dup MANE Select | ENSP00000332809.4:p.Ser1147HisfsTer26 | |
| ENST00000331664.5:c.3436_3437dup | ENSP00000332809.4:p.Ser1147HisfsTer26 | |
| NM_001029883.2:c.3436_3437dup | NP_001025054.1:p.Ser1147HisfsTer26 | |
| XM_011532826.1:c.3436_3437dup | XP_011531128.1:p.Ser1147HisfsTer26 | |
| XR_939901.1:n.185+1658_185+1659dup | ||
| XR_939902.1:n.173+1670_173+1671dup | ||
| NM_001029883.3:c.3436_3437dup MANE Select | NP_001025054.1:p.Ser1147HisfsTer26 |