Linked Data
dbSNP Id:
rs1803539088
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155812212_155812215dup , CM000669.2:g.155812212_155812215dup | GRCh38 |
| NC_000007.13:g.155604906_155604909dup , CM000669.1:g.155604906_155604909dup | GRCh37 |
| NC_000007.12:g.155297667_155297670dup | NCBI36 |
| NG_007504.2:g.5060_5063dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.-92_-89dup MANE Select | ENSP00000297261.2:n.-92_-89dup | |
| ENST00000297261.6:c.-92_-89dup | ENSP00000297261.2:n.-92_-89dup | |
| NM_000193.2:c.-92_-89dup | NP_000184.1:n.-92_-89dup | |
| NM_000193.3:c.-92_-89dup | NP_000184.1:n.-92_-89dup | |
| NM_000193.4:c.-92_-89dup MANE Select | NP_000184.1:n.-92_-89dup |