Linked Data
dbSNP Id:
rs1415328797
gnomAD v3:
1-162199622-G-GTC
gnomAD v4:
1-162199622-G-GTC
MyVariant Identifiers:
chr1:g.162169412_162169413insTC (hg19)
chr1:g.162199622_162199623insTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162199623_162199624insCT , CM000663.2:g.162199623_162199624insCT | GRCh38 |
| NC_000001.10:g.162169413_162169414insCT , CM000663.1:g.162169413_162169414insCT | GRCh37 |
| NC_000001.9:g.160436037_160436038insCT | NCBI36 |
| NG_015979.1:g.134833_134834insCT | |
| NG_015979.2:g.134833_134834insCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361897.10:c.177+45147_177+45148insCT MANE Select | ENSP00000355133.5:n.177+45147_177+45148insCT | |
| ENST00000361897.9:c.177+45147_177+45148insCT | ENSP00000355133.5:n.177+45147_177+45148insCT | |
| ENST00000430120.3:c.177+45147_177+45148insCT | ENSP00000396713.3:n.177+45147_177+45148insCT | |
| ENST00000530878.5:c.177+45147_177+45148insCT | ENSP00000431586.1:n.177+45147_177+45148insCT | |
| NM_001164757.1:c.177+45147_177+45148insCT | NP_001158229.1:n.177+45147_177+45148insCT | |
| NM_014697.2:c.177+45147_177+45148insCT | NP_055512.1:n.177+45147_177+45148insCT | |
| NM_014697.3:c.177+45147_177+45148insCT MANE Select | NP_055512.1:n.177+45147_177+45148insCT | |
| NM_001164757.2:c.177+45147_177+45148insCT | NP_001158229.1:n.177+45147_177+45148insCT |