Linked Data
dbSNP Id:
rs748123571
ExAC:
1:41249994 C / CT
gnomAD v2:
1-41249994-C-CT
gnomAD v4:
1-40784322-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40784322_40784323insT , CM000663.2:g.40784322_40784323insT | GRCh38 |
| NC_000001.10:g.41249994_41249995insT , CM000663.1:g.41249994_41249995insT | GRCh37 |
| NC_000001.9:g.41022581_41022582insT | NCBI36 |
| NG_008139.1:g.5311_5312insT | |
| NG_008139.2:g.5311_5312insT | |
| NG_008139.3:g.5536_5537insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.229_230insT MANE Select | ENSP00000262916.6:p.His77LeufsTer? | |
| ENST00000347132.9:c.229_230insT | ENSP00000262916.6:p.His77LeufsTer? | |
| ENST00000509682.6:c.229_230insT | ENSP00000423756.2:p.His77LeufsTer? | |
| NM_004700.3:c.229_230insT | NP_004691.2:p.His77LeufsTer? | |
| NM_172163.2:c.229_230insT | NP_751895.1:p.His77LeufsTer? | |
| XM_011542417.1:c.229_230insT | XP_011540719.1:p.His77LeufsTer? | |
| XM_011542418.1:c.229_230insT | XP_011540720.1:p.His77LeufsTer? | |
| XM_011542419.1:c.229_230insT | XP_011540721.1:p.His77LeufsTer? | |
| XM_011542420.1:c.229_230insT | XP_011540722.1:p.His77LeufsTer? | |
| XR_946798.1:n.235_236insT | ||
| XR_946799.1:n.235_236insT | ||
| XR_946800.1:n.235_236insT | ||
| NM_004700.4:c.229_230insT MANE Select | NP_004691.2:p.His77LeufsTer? | |
| NM_172163.3:c.229_230insT | NP_751895.1:p.His77LeufsTer? |