Linked Data
dbSNP Id:
rs397889714
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95321484dup , CM000669.2:g.95321484dup | GRCh38 |
| NC_000007.13:g.94950796dup , CM000669.1:g.94950796dup | GRCh37 |
| NC_000007.12:g.94788732dup | NCBI36 |
| NG_008779.1:g.8090dup | |
| NG_008779.2:g.8224dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222381.8:c.74+2919dup MANE Select | ENSP00000222381.3:n.74+2919dup | |
| ENST00000222381.7:c.74+2919dup | ENSP00000222381.3:n.74+2919dup | |
| ENST00000433729.1:c.74+2919dup | ENSP00000407359.1:n.74+2919dup | |
| NM_000446.5:c.74+2919dup | NP_000437.3:n.74+2919dup | |
| NM_000446.6:c.74+2919dup | NP_000437.3:n.74+2919dup | |
| NM_000446.7:c.74+2919dup MANE Select | NP_000437.3:n.74+2919dup |