Linked Data
dbSNP Id:
rs2148414977
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071000_29071001dup , CM000664.2:g.29071000_29071001dup | GRCh38 |
| NC_000002.11:g.29293866_29293867dup , CM000664.1:g.29293866_29293867dup | GRCh37 |
| NC_000002.10:g.29147370_29147371dup | NCBI36 |
| NG_021427.1:g.8262_8263dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3262_3263dup MANE Select | ENSP00000332809.4:p.Ser1090HisfsTer24 | |
| ENST00000331664.5:c.3262_3263dup | ENSP00000332809.4:p.Ser1090HisfsTer24 | |
| NM_001029883.2:c.3262_3263dup | NP_001025054.1:p.Ser1090HisfsTer24 | |
| XM_011532826.1:c.3262_3263dup | XP_011531128.1:p.Ser1090HisfsTer24 | |
| XR_939901.1:n.185+1833_185+1834dup | ||
| XR_939902.1:n.173+1845_173+1846dup | ||
| NM_001029883.3:c.3262_3263dup MANE Select | NP_001025054.1:p.Ser1090HisfsTer24 |