Linked Data
dbSNP Id:
rs1760253249
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6145081dup , CM000668.2:g.6145081dup | GRCh38 |
| NC_000006.11:g.6145314dup , CM000668.1:g.6145314dup | GRCh37 |
| NC_000006.10:g.6090313dup | NCBI36 |
| NG_008107.1:g.180614dup , LRG_549:g.180614dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.*541dup MANE Select | ENSP00000264870.3:n.*541dup | |
| ENST00000264870.7:c.*541dup | ENSP00000264870.3:n.*541dup | |
| NM_000129.3:c.*541dup , LRG_549t1:c.*541dup | NP_000120.2:n.*541dup | |
| XM_006715010.2:c.*541dup | XP_006715073.1:n.*541dup | |
| XM_011514342.1:c.*541dup | XP_011512644.1:n.*541dup | |
| NM_000129.4:c.*541dup MANE Select | NP_000120.2:n.*541dup |