Linked Data
dbSNP Id:
rs746024289
ExAC:
19:694922 TG / T
gnomAD v2:
19-694922-TG-T
gnomAD v4:
19-694922-TG-T
MyVariant Identifiers:
chr19:g.694924del (hg19)
chr19:g.694923del (hg19)
chr19:g.694924del (hg38)
chr19:g.694923del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.694928del , CM000681.2:g.694928del | GRCh38 |
| NC_000019.9:g.694928del , CM000681.1:g.694928del | GRCh37 |
| NC_000019.8:g.645928del | NCBI36 |
| NG_051189.1:g.5609del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329267.9:c.124del MANE Select | ENSP00000327386.6:p.His42ThrfsTer? | |
| ENST00000329267.8:c.124del | ENSP00000327386.6:p.His42ThrfsTer? | |
| ENST00000613411.4:c.127del | ENSP00000482358.1:p.His43ThrfsTer? | |
| NM_001308209.1:c.124del | NP_001295138.1:p.His42ThrfsTer? | |
| NM_214710.3:c.127del | NP_999875.1:p.His43ThrfsTer? | |
| NM_214710.4:c.127del | NP_999875.1:p.His43ThrfsTer? | |
| NM_001308209.2:c.124del MANE Select | NP_001295138.2:p.His42ThrfsTer? | |
| NM_214710.5:c.127del | NP_999875.2:p.His43ThrfsTer? |