Linked Data
dbSNP Id:
rs2059028762
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877125_240877128dup , CM000664.2:g.240877125_240877128dup | GRCh38 |
| NC_000002.11:g.241816542_241816545dup , CM000664.1:g.241816542_241816545dup | GRCh37 |
| NC_000002.10:g.241465215_241465218dup | NCBI36 |
| NG_008005.1:g.13381_13384dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.847-412_847-409dup MANE Select | ENSP00000302620.3:n.847-412_847-409dup | |
| ENST00000307503.3:c.847-412_847-409dup | ENSP00000302620.3:n.847-412_847-409dup | |
| ENST00000470255.1:n.213_216dup | ||
| NM_000030.2:c.847-412_847-409dup | NP_000021.1:n.847-412_847-409dup | |
| NM_000030.3:c.847-412_847-409dup MANE Select | NP_000021.1:n.847-412_847-409dup |