Linked Data
dbSNP Id:
rs751663238
ExAC:
19:39421198 A / AT
gnomAD v2:
19-39421198-A-AT
gnomAD v4:
19-38930558-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38930559dup , CM000681.2:g.38930559dup | GRCh38 |
| NC_000019.9:g.39421199dup , CM000681.1:g.39421199dup | GRCh37 |
| NC_000019.8:g.44113039dup | NCBI36 |
| NG_029222.1:g.4852dup | |
| NG_031865.1:g.5338dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221431.11:c.178dup (SARS2) MANE Select | ENSP00000221431.6:p.Ile60AsnfsTer? | |
| ENST00000221431.10:c.178dup (SARS2) | ENSP00000221431.5:p.Ile60AsnfsTer? | |
| ENST00000308018.8:c.-459dup (MRPS12) | ENSP00000308845.3:n.-459dup | |
| ENST00000430193.7:c.178dup (SARS2) | ENSP00000406754.3:p.Ile60AsnfsTer? | |
| ENST00000455102.6:c.178dup (SARS2) | ENSP00000414954.2:p.Ile60AsnfsTer? | |
| ENST00000593754.1:c.178dup (SARS2) | ENSP00000471767.1:p.Ile60AsnfsTer? | |
| ENST00000598343.5:c.178dup (SARS2) | ENSP00000472576.1:p.Ile60AsnfsTer? | |
| ENST00000598598.5:n.205dup (SARS2) | ||
| ENST00000599996.1:c.476-4259dup | ||
| ENST00000600042.5:c.178dup (SARS2) | ENSP00000472847.1:p.Ile60AsnfsTer? | |
| NM_001145901.1:c.178dup (SARS2) | NP_001139373.1:p.Ile60AsnfsTer? | |
| NM_017827.3:c.178dup (SARS2) | NP_060297.1:p.Ile60AsnfsTer? | |
| NM_001145901.2:c.178dup (SARS2) | NP_001139373.1:p.Ile60AsnfsTer? | |
| NM_017827.4:c.178dup (SARS2) MANE Select | NP_060297.1:p.Ile60AsnfsTer? |