Linked Data
dbSNP Id:
rs2048502749
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372212dup , CM000679.2:g.44372212dup | GRCh38 |
| NC_000017.10:g.42449580dup , CM000679.1:g.42449580dup | GRCh37 |
| NC_000017.9:g.39805106dup | NCBI36 |
| NG_008331.1:g.22294dup , LRG_479:g.22294dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.*152dup MANE Select | ENSP00000262407.5:n.*152dup | |
| ENST00000648408.1:c.2586dup | ||
| ENST00000262407.5:c.*152dup | ENSP00000262407.5:n.*152dup | |
| ENST00000587295.5:c.465dup | ||
| ENST00000588098.1:c.249dup | ||
| NM_000419.3:c.*152dup , LRG_479t1:c.*152dup | NP_000410.2:n.*152dup | |
| XM_011524749.1:c.*152dup | XP_011523051.1:n.*152dup | |
| XM_011524750.1:c.*152dup | XP_011523052.1:n.*152dup | |
| NM_000419.4:c.*152dup | NP_000410.2:n.*152dup | |
| NM_000419.5:c.*152dup MANE Select | NP_000410.2:n.*152dup |