Linked Data
dbSNP Id:
rs1850057352
gnomAD v3:
10-133412196-G-GTTTGGT
gnomAD v4:
10-133412196-G-GTTTGGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133412206_133412211dup , CM000672.2:g.133412206_133412211dup | GRCh38 |
| NC_000010.10:g.135225710_135225715dup , CM000672.1:g.135225710_135225715dup | GRCh37 |
| NC_000010.9:g.135075700_135075705dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317502.11:c.753-7274_753-7269dup MANE Select | ENSP00000323047.6:n.753-7274_753-7269dup | |
| ENST00000468317.3:c.*677-7274_*677-7269dup | ENSP00000436767.2:n.*677-7274_*677-7269du... | |
| ENST00000317502.10:c.753-7274_753-7269dup | ENSP00000323047.6:n.753-7274_753-7269dup | |
| ENST00000432508.3:c.600-7274_600-7269dup | ENSP00000393480.2:n.600-7274_600-7269dup | |
| ENST00000460848.5:n.1336-7274_1336-7269dup | ||
| ENST00000468317.2:c.768-7274_768-7269dup | ENSP00000436767.1:n.768-7274_768-7269dup | |
| ENST00000473735.1:n.1607-7274_1607-7269dup | ||
| ENST00000477902.6:c.630-7274_630-7269dup | ENSP00000475596.1:n.630-7274_630-7269dup | |
| NM_138384.2:c.753-7274_753-7269dup | NP_612393.2:n.753-7274_753-7269dup | |
| NM_138384.3:c.753-7274_753-7269dup | NP_612393.2:n.753-7274_753-7269dup | |
| NM_138384.4:c.753-7274_753-7269dup MANE Select | NP_612393.2:n.753-7274_753-7269dup |