Linked Data
dbSNP Id:
rs770180355
gnomAD v2:
1-115248500-CT-C
gnomAD v3:
1-114705879-CT-C
gnomAD v4:
1-114705879-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114705880del , CM000663.2:g.114705880del | GRCh38 |
| NC_000001.10:g.115248501del , CM000663.1:g.115248501del | GRCh37 |
| NC_000001.9:g.115050024del | NCBI36 |
| NG_007572.1:g.16015del , LRG_92:g.16015del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.*2214del MANE Select | ENSP00000358548.4:n.*2214del | |
| ENST00000369535.4:c.*2214del | ENSP00000358548.4:n.*2214del | |
| NM_002524.4:c.*2214del | NP_002515.1:n.*2214del | |
| NM_002524.5:c.*2214del MANE Select | NP_002515.1:n.*2214del |