Linked Data
dbSNP Id:
rs754660394
ExAC:
1:171621629 AT / A
gnomAD v2:
1-171621629-AT-A
gnomAD v4:
1-171652489-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652491del , CM000663.2:g.171652491del | GRCh38 |
| NC_000001.10:g.171621631del , CM000663.1:g.171621631del | GRCh37 |
| NC_000001.9:g.169888254del | NCBI36 |
| NG_008859.1:g.5144del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.122del MANE Select | ENSP00000037502.5:p.Asn41MetfsTer? | |
| ENST00000638471.1:c.122del | ENSP00000491206.1:p.Asn41MetfsTer? | |
| ENST00000037502.10:c.122del | ENSP00000037502.5:p.Asn41MetfsTer? | |
| ENST00000614688.1:c.122del | ENSP00000478680.1:p.Asn41MetfsTer? | |
| NM_000261.1:c.122del | NP_000252.1:p.Asn41MetfsTer? | |
| NM_000261.2:c.122del MANE Select | NP_000252.1:p.Asn41MetfsTer? |