Linked Data
dbSNP Id:
rs775458201
ExAC:
4:52894229 CT / C
gnomAD v2:
4-52894229-CT-C
gnomAD v4:
4-52028063-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028067del , CM000666.2:g.52028067del | GRCh38 |
| NC_000004.11:g.52894233del , CM000666.1:g.52894233del | GRCh37 |
| NC_000004.10:g.52588990del | NCBI36 |
| NG_008891.1:g.15256del , LRG_204:g.15256del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.657del MANE Select | ENSP00000370839.6:p.Val220LeufsTer? | |
| ENST00000381431.9:c.657del | ENSP00000370839.5:p.Val220LeufsTer? | |
| NM_000232.4:c.657del , LRG_204t1:c.657del | NP_000223.1:p.Val220LeufsTer? | |
| XM_006714049.2:c.360del | XP_006714112.1:p.Val121LeufsTer? | |
| XM_011534403.1:c.447del | XP_011532705.1:p.Val150LeufsTer? | |
| XM_011534404.1:c.360del | XP_011532706.1:p.Val121LeufsTer? | |
| NM_000232.5:c.657del MANE Select | NP_000223.1:p.Val220LeufsTer? |