Linked Data
dbSNP Id:
rs755483230
ExAC:
10:96540427 G / GA
gnomAD v2:
10-96540427-G-GA
gnomAD v4:
10-94780670-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780670_94780671insA , CM000672.2:g.94780670_94780671insA | GRCh38 |
| NC_000010.10:g.96540427_96540428insA , CM000672.1:g.96540427_96540428insA | GRCh37 |
| NC_000010.9:g.96530417_96530418insA | NCBI36 |
| NG_008384.2:g.22965_22966insA | |
| NG_008384.3:g.22990_22991insA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.642+11_642+12insA MANE Select | ENSP00000360372.3:n.642+11_642+12insA | |
| ENST00000645461.1:n.1695+11_1695+12insA | ||
| ENST00000371321.7:c.642+11_642+12insA | ENSP00000360372.3:n.642+11_642+12insA | |
| ENST00000464755.1:c.1405+11_1405+12insA | ENSP00000483243.1:n.1405+11_1405+12insA | |
| NM_000769.2:c.642+11_642+12insA | NP_000760.1:n.642+11_642+12insA | |
| NM_000769.4:c.642+11_642+12insA MANE Select | NP_000760.1:n.642+11_642+12insA |