Linked Data
dbSNP Id:
rs1785697358
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32177652_32177654dup , CM000668.2:g.32177652_32177654dup | GRCh38 |
| NC_000006.11:g.32145429_32145431dup , CM000668.1:g.32145429_32145431dup | GRCh37 |
| NC_000006.10:g.32253407_32253409dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336984.6:c.-10+347_-10+349dup | ENSP00000337463.6:n.-10+347_-10+349dup | |
| ENST00000395497.5:c.-120_-118dup | ENSP00000378875.1:n.-120_-118dup | |
| NM_032741.4:c.-10+347_-10+349dup | NP_116130.2:n.-10+347_-10+349dup | |
| XM_011514234.1:c.-120_-118dup | XP_011512536.1:n.-120_-118dup | |
| XM_005248806.2:c.-430_-428dup | XP_005248863.1:n.-430_-428dup | |
| NM_032741.5:c.-10+347_-10+349dup | NP_116130.2:n.-10+347_-10+349dup |