Linked Data
dbSNP Id:
rs781073034
ExAC:
1:152281292 GC / G
gnomAD v2:
1-152281292-GC-G
gnomAD v4:
1-152308816-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152308819del , CM000663.2:g.152308819del | GRCh38 |
| NC_000001.10:g.152281295del , CM000663.1:g.152281295del | GRCh37 |
| NC_000001.9:g.150547919del | NCBI36 |
| NG_016190.1:g.21387del , LRG_1028:g.21387del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.6069del MANE Select | ENSP00000357789.1:p.His2024MetfsTer? | |
| ENST00000368799.1:c.6069del | ENSP00000357789.1:p.His2024MetfsTer? | |
| NM_002016.1:c.6069del , LRG_1028t1:c.6069del | NP_002007.1:p.His2024MetfsTer? | |
| XM_011509329.1:c.6069del | XP_011507631.1:p.His2024MetfsTer? | |
| NM_002016.2:c.6069del MANE Select | NP_002007.1:p.His2024MetfsTer? |