Linked Data
dbSNP Id:
rs1553249502
gnomAD v2:
1-215814201-A-AG
gnomAD v3:
1-215640859-A-AG
gnomAD v4:
1-215640859-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215640859_215640860insG , CM000663.2:g.215640859_215640860insG | GRCh38 |
| NC_000001.10:g.215814201_215814202insG , CM000663.1:g.215814201_215814202insG | GRCh37 |
| NC_000001.9:g.213880824_213880825insG | NCBI36 |
| NG_009497.1:g.787537_787538insC | |
| NG_009497.2:g.787589_787590insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.14792-126_14792-125insC MANE Select | ENSP00000305941.3:n.14792-126_14792-125insC | |
| ENST00000674083.1:c.14792-126_14792-125insC | ENSP00000501296.1:n.14792-126_14792-125insC | |
| ENST00000307340.7:c.14792-126_14792-125insC | ENSP00000305941.3:n.14792-126_14792-125insC | |
| NM_206933.2:c.14792-126_14792-125insC | NP_996816.2:n.14792-126_14792-125insC | |
| NM_206933.3:c.14792-126_14792-125insC | NP_996816.2:n.14792-126_14792-125insC | |
| NM_206933.4:c.14792-126_14792-125insC MANE Select | NP_996816.3:n.14792-126_14792-125insC |