Linked Data
dbSNP Id:
rs776377156
ExAC:
12:132425829 C / CT
gnomAD v2:
12-132425829-C-CT
gnomAD v4:
12-131941284-C-CT
MyVariant Identifiers:
chr12:g.132425829_132425830insT (hg19)
chr12:g.131941284_131941285insT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941284_131941285insT , CM000674.2:g.131941284_131941285insT | GRCh38 |
| NC_000012.11:g.132425829_132425830insT , CM000674.1:g.132425829_132425830insT | GRCh37 |
| NC_000012.10:g.130991782_130991783insT | NCBI36 |
| NG_013039.1:g.17085_17086insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.545-8_545-7insT MANE Select | ENSP00000365837.3:n.545-8_545-7insT | |
| ENST00000322060.9:c.461-8_461-7insT | ENSP00000324726.5:n.461-8_461-7insT | |
| ENST00000376649.7:c.545-8_545-7insT | ENSP00000365837.3:n.545-8_545-7insT | |
| ENST00000443358.6:c.461-8_461-7insT | ENSP00000392451.2:n.461-8_461-7insT | |
| ENST00000535067.5:c.358-2255_358-2254insT | ENSP00000443969.1:n.358-2255_358-2254insT | |
| ENST00000537484.1:c.470-8_470-7insT | ENSP00000440179.1:n.470-8_470-7insT | |
| ENST00000542167.2:c.386-8_386-7insT | ENSP00000438948.1:n.386-8_386-7insT | |
| ENST00000543754.1:n.358_359insT | ||
| NM_001002019.2:c.461-8_461-7insT | NP_001002019.1:n.461-8_461-7insT | |
| NM_001002020.2:c.461-8_461-7insT | NP_001002020.1:n.461-8_461-7insT | |
| NM_025215.5:c.545-8_545-7insT | NP_079491.2:n.545-8_545-7insT | |
| XM_011538768.1:c.146-8_146-7insT | XP_011537070.1:n.146-8_146-7insT | |
| XM_011538768.3:c.146-8_146-7insT | XP_011537070.1:n.146-8_146-7insT | |
| XR_001748872.1:n.1000-8_1000-7insT | ||
| NM_001002019.3:c.461-8_461-7insT | NP_001002019.1:n.461-8_461-7insT | |
| NM_001002020.3:c.461-8_461-7insT | NP_001002020.1:n.461-8_461-7insT | |
| NM_025215.6:c.545-8_545-7insT MANE Select | NP_079491.2:n.545-8_545-7insT |