Linked Data
dbSNP Id:
rs766960455
ExAC:
17:48270080 C / CG
gnomAD v2:
17-48270080-C-CG
gnomAD v4:
17-50192719-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50192723dup , CM000679.2:g.50192723dup | GRCh38 |
| NC_000017.10:g.48270084dup , CM000679.1:g.48270084dup | GRCh37 |
| NC_000017.9:g.45625083dup | NCBI36 |
| NG_007400.1:g.13920dup , LRG_1:g.13920dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1876-27dup MANE Select | ENSP00000225964.6:n.1876-27dup | |
| ENST00000225964.9:c.1876-27dup | ENSP00000225964.5:n.1876-27dup | |
| ENST00000476387.1:n.225-27dup | ||
| NM_000088.3:c.1876-27dup , LRG_1t1:c.1876-27dup | NP_000079.2:n.1876-27dup | |
| XM_005257058.3:c.1876-27dup | XP_005257115.2:n.1876-27dup | |
| XM_005257059.3:c.958-27dup | XP_005257116.2:n.958-27dup | |
| XM_011524341.1:c.1678-27dup | XP_011522643.1:n.1678-27dup | |
| XM_005257058.4:c.1876-27dup | XP_005257115.2:n.1876-27dup | |
| XM_005257059.4:c.958-27dup | XP_005257116.2:n.958-27dup | |
| NM_000088.4:c.1876-27dup MANE Select | NP_000079.2:n.1876-27dup |