Linked Data
dbSNP Id:
rs762621890
ExAC:
17:6683813 CT / C
gnomAD v2:
17-6683813-CT-C
gnomAD v4:
17-6780494-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6780495del , CM000679.2:g.6780495del | GRCh38 |
| NC_000017.10:g.6683814del , CM000679.1:g.6683814del | GRCh37 |
| NC_000017.9:g.6624538del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321535.5:c.627del MANE Select | ENSP00000321386.4:p.Val210SerfsTer20 | |
| ENST00000321535.4:c.627del | ENSP00000321386.4:p.Val210SerfsTer20 | |
| NM_153230.2:c.627del | NP_694962.1:p.Val210SerfsTer20 | |
| XM_011523697.1:c.627del | XP_011521999.1:p.Val210SerfsTer20 | |
| XR_243544.3:n.805del | ||
| NM_153230.3:c.627del MANE Select | NP_694962.1:p.Val210SerfsTer20 |