Linked Data
dbSNP Id:
rs2067291146
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644052_10644053dup , CM000682.2:g.10644052_10644053dup | GRCh38 |
| NC_000020.10:g.10624700_10624701dup , CM000682.1:g.10624700_10624701dup | GRCh37 |
| NC_000020.9:g.10572700_10572701dup | NCBI36 |
| NG_007496.1:g.34994_34995dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2373-190_2373-189dup MANE Select | ENSP00000254958.4:n.2373-190_2373-189dup | |
| ENST00000617965.2:n.2962-190_2962-189dup | ||
| ENST00000254958.9:c.2373-190_2373-189dup | ENSP00000254958.4:n.2373-190_2373-189dup | |
| ENST00000423891.6:n.2239-190_2239-189dup | ||
| NM_000214.2:c.2373-190_2373-189dup | NP_000205.1:n.2373-190_2373-189dup | |
| NM_000214.3:c.2373-190_2373-189dup MANE Select | NP_000205.1:n.2373-190_2373-189dup |