Linked Data
dbSNP Id:
rs750112878
ExAC:
10:96740948 CA / C
gnomAD v2:
10-96740948-CA-C
gnomAD v3:
10-94981191-CA-C
gnomAD v4:
10-94981191-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94981192del , CM000672.2:g.94981192del | GRCh38 |
| NC_000010.10:g.96740949del , CM000672.1:g.96740949del | GRCh37 |
| NC_000010.9:g.96730939del | NCBI36 |
| NG_008385.1:g.47535del | |
| NG_008385.2:g.48035del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.971del MANE Select | ENSP00000260682.6:p.Gln324ArgfsTer7 | |
| ENST00000643112.1:c.829del | ENSP00000496202.1:p.Arg277GlyfsTer4 | |
| ENST00000260682.6:c.971del | ENSP00000260682.6:p.Gln324ArgfsTer7 | |
| NM_000771.3:c.971del | NP_000762.2:p.Gln324ArgfsTer7 | |
| NM_000771.4:c.971del MANE Select | NP_000762.2:p.Gln324ArgfsTer7 |