Linked Data
dbSNP Id:
rs1252885007
gnomAD v2:
1-62912782-C-CT
gnomAD v3:
1-62447111-C-CT
gnomAD v4:
1-62447111-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.62447111_62447112insT , CM000663.2:g.62447111_62447112insT | GRCh38 |
| NC_000001.10:g.62912782_62912783insT , CM000663.1:g.62912782_62912783insT | GRCh37 |
| NC_000001.9:g.62685370_62685371insT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339950.5:c.1250-230_1250-229insT MANE Select | ENSP00000343526.4:n.1250-230_1250-229insT | |
| ENST00000339950.4:c.1250-230_1250-229insT | ENSP00000343526.4:n.1250-230_1250-229insT | |
| ENST00000371146.5:c.1250-230_1250-229insT | ENSP00000360188.1:n.1250-230_1250-229insT | |
| NM_001017415.1:c.1250-230_1250-229insT | NP_001017415.1:n.1250-230_1250-229insT | |
| NM_001017416.1:c.1250-230_1250-229insT | NP_001017416.1:n.1250-230_1250-229insT | |
| NM_003368.4:c.1250-230_1250-229insT | NP_003359.3:n.1250-230_1250-229insT | |
| NM_003368.5:c.1250-230_1250-229insT MANE Select | NP_003359.3:n.1250-230_1250-229insT | |
| NM_001017415.2:c.1250-230_1250-229insT | NP_001017415.1:n.1250-230_1250-229insT | |
| NM_001017416.2:c.1250-230_1250-229insT | NP_001017416.1:n.1250-230_1250-229insT |