Linked Data
dbSNP Id:
rs764701257
ExAC:
6:167754763 TC / T
gnomAD v2:
6-167754763-TC-T
gnomAD v3:
6-167341275-TC-T
gnomAD v4:
6-167341275-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167341276del , CM000668.2:g.167341276del | GRCh38 |
| NC_000006.11:g.167754764del , CM000668.1:g.167754764del | GRCh37 |
| NC_000006.10:g.167674754del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239587.10:c.1376del MANE Select | ENSP00000239587.5:p.Ser459CysfsTer18 | |
| ENST00000649884.1:c.1157del | ENSP00000497040.1:p.Ser386CysfsTer18 | |
| ENST00000239587.9:c.1376del | ENSP00000239587.5:p.Ser459CysfsTer18 | |
| ENST00000515138.1:c.1376del | ENSP00000424130.1:p.Ser459CysfsTer18 | |
| NM_031949.4:c.1376del | NP_114155.4:p.Ser459CysfsTer18 | |
| XM_006715572.2:c.1157del | XP_006715635.1:p.Ser386CysfsTer18 | |
| XM_006715572.4:c.1157del | XP_006715635.1:p.Ser386CysfsTer18 | |
| NM_031949.5:c.1376del MANE Select | NP_114155.4:p.Ser459CysfsTer18 |