Linked Data
dbSNP Id:
rs768486255
ExAC:
1:204128698 ATC / A
gnomAD v2:
1-204128698-ATC-A
gnomAD v3:
1-204159570-ATC-A
gnomAD v4:
1-204159570-ATC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204159572_204159573del , CM000663.2:g.204159572_204159573del | GRCh38 |
| NC_000001.10:g.204128700_204128701del , CM000663.1:g.204128700_204128701del | GRCh37 |
| NC_000001.9:g.202395323_202395324del | NCBI36 |
| NG_012122.1:g.11766_11767del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.516_517del MANE Select | ENSP00000272190.8:p.Gln172HisfsTer19 | |
| ENST00000638118.1:c.402_403del | ENSP00000490307.1:p.Gln134HisfsTer19 | |
| ENST00000272190.8:c.516_517del | ENSP00000272190.8:p.Gln172HisfsTer19 | |
| NM_000537.3:c.516_517del | NP_000528.1:p.Gln172HisfsTer19 | |
| NM_000537.4:c.516_517del MANE Select | NP_000528.1:p.Gln172HisfsTer19 |