Linked Data
dbSNP Id:
rs751679149
ExAC:
5:148207180 CA / C
gnomAD v2:
5-148207180-CA-C
gnomAD v4:
5-148827617-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827619del , CM000667.2:g.148827619del | GRCh38 |
| NC_000005.9:g.148207182del , CM000667.1:g.148207182del | GRCh37 |
| NC_000005.8:g.148187375del | NCBI36 |
| NG_016421.1:g.6027del | |
| NG_016421.2:g.6027del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.788del MANE Select | ENSP00000305372.4:p.Lys263SerfsTer4 | |
| ENST00000305988.5:c.788del | ENSP00000305372.4:p.Lys263SerfsTer4 | |
| NM_000024.5:c.788del | NP_000015.1:p.Lys263SerfsTer4 | |
| NM_000024.6:c.788del MANE Select | NP_000015.2:p.Lys263SerfsTer4 |