Linked Data
dbSNP Id:
rs1817900828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111374_118111375dup , CM000670.2:g.118111374_118111375dup | GRCh38 |
| NC_000008.10:g.119123613_119123614dup , CM000670.1:g.119123613_119123614dup | GRCh37 |
| NC_000008.9:g.119192794_119192795dup | NCBI36 |
| NG_007455.2:g.5447_5448dup , LRG_493:g.5447_5448dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-327_-326dup MANE Select | ENSP00000367446.3:n.-327_-326dup | |
| ENST00000378204.6:c.-327_-326dup | ENSP00000367446.2:n.-327_-326dup | |
| NM_000127.2:c.-327_-326dup , LRG_493t1:c.-327_-326dup | NP_000118.2:n.-327_-326dup | |
| NM_000127.3:c.-327_-326dup MANE Select | NP_000118.2:n.-327_-326dup |