Linked Data
dbSNP Id:
rs756852433
ExAC:
15:74631898 T / TG
gnomAD v2:
15-74631898-T-TG
gnomAD v3:
15-74339557-T-TG
gnomAD v4:
15-74339557-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74339562dup , CM000677.2:g.74339562dup | GRCh38 |
| NC_000015.9:g.74631903dup , CM000677.1:g.74631903dup | GRCh37 |
| NC_000015.8:g.72418956dup | NCBI36 |
| NG_007973.1:g.33184dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268053.11:c.1157+29dup MANE Select | ENSP00000268053.6:n.1157+29dup | |
| ENST00000268053.10:c.1157+29dup | ENSP00000268053.6:n.1157+29dup | |
| ENST00000358632.8:c.683+29dup | ENSP00000351455.4:n.683+29dup | |
| ENST00000435365.5:c.1157+29dup | ENSP00000391081.1:n.1157+29dup | |
| NM_000781.2:c.1157+29dup | NP_000772.2:n.1157+29dup | |
| NM_001099773.1:c.683+29dup | NP_001093243.1:n.683+29dup | |
| NM_000781.3:c.1157+29dup MANE Select | NP_000772.2:n.1157+29dup | |
| NM_001099773.2:c.683+29dup | NP_001093243.1:n.683+29dup |