Linked Data
dbSNP Id:
rs1047273619
gnomAD v2:
1-169700809-AG-A
gnomAD v3:
1-169731668-AG-A
gnomAD v4:
1-169731668-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169731670del , CM000663.2:g.169731670del | GRCh38 |
| NC_000001.10:g.169700811del , CM000663.1:g.169700811del | GRCh37 |
| NC_000001.9:g.167967435del | NCBI36 |
| NG_012124.1:g.7411del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333360.12:c.529+166del (SELE) MANE Select | ENSP00000331736.7:n.529+166del | |
| ENST00000333360.11:c.529+166del (SELE) | ENSP00000331736.7:n.529+166del | |
| ENST00000367774.1:c.529+166del (SELE) | ENSP00000356748.1:n.529+166del | |
| ENST00000367775.5:c.529+166del (SELE) | ENSP00000356749.1:n.529+166del | |
| ENST00000367776.5:c.529+166del (SELE) | ENSP00000356750.1:n.529+166del | |
| ENST00000367777.5:c.529+166del (SELE) | ENSP00000356751.1:n.529+166del | |
| ENST00000461085.1:n.378del (SELE) | ||
| ENST00000498289.5:n.851+47738del (FIRRM) | ||
| NM_000450.2:c.529+166del (SELE) MANE Select | NP_000441.2:n.529+166del |