Linked Data
dbSNP Id:
rs2077770624
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990568_45990605dup , CM000683.2:g.45990568_45990605dup | GRCh38 |
| NC_000021.8:g.47410482_47410519dup , CM000683.1:g.47410482_47410519dup | GRCh37 |
| NC_000021.7:g.46234910_46234947dup | NCBI36 |
| NG_008674.1:g.13820_13857dup , LRG_475:g.13820_13857dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+146_1003-168dup MANE Select | ENSP00000355180.3:n.1002+146_1003-168dup | |
| ENST00000361866.7:c.1002+146_1003-168dup | ENSP00000355180.3:n.1002+146_1003-168dup | |
| ENST00000612273.1:c.1002+146_1003-168dup | ENSP00000483630.1:n.1002+146_1003-168dup | |
| NM_001848.2:c.1002+146_1003-168dup , LRG_475t1:c.1002+146_1003-168dup | NP_001839.2:n.1002+146_1003-168dup | |
| NM_001848.3:c.1002+146_1003-168dup MANE Select | NP_001839.2:n.1002+146_1003-168dup |