Linked Data
ClinVar Variation Id:
329227
dbSNP Id:
rs730078
ExAC:
19:39421388 A / G
gnomAD v2:
19-39421388-A-G
gnomAD v3:
19-38930748-A-G
gnomAD v4:
19-38930748-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38930748A>G , CM000681.2:g.38930748A>G | GRCh38 |
| NC_000019.9:g.39421388A>G , CM000681.1:g.39421388A>G | GRCh37 |
| NC_000019.8:g.44113228A>G | NCBI36 |
| NG_029222.1:g.5041A>G | |
| NG_031865.1:g.5149T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221431.11:c.-12T>C (SARS2) MANE Select | ENSP00000221431.6:n.-12T>C | |
| ENST00000221431.10:c.-12T>C (SARS2) | ENSP00000221431.5:n.-12T>C | |
| ENST00000308018.8:c.-270A>G (MRPS12) | ENSP00000308845.3:n.-270A>G | |
| ENST00000430193.7:c.-12T>C (SARS2) | ENSP00000406754.3:n.-12T>C | |
| ENST00000455102.6:c.-12T>C (SARS2) | ENSP00000414954.2:n.-12T>C | |
| ENST00000593754.1:c.-12T>C (SARS2) | ENSP00000471767.1:n.-12T>C | |
| ENST00000598343.5:c.-12T>C (SARS2) | ENSP00000472576.1:n.-12T>C | |
| ENST00000598598.5:n.16T>C (SARS2) | ||
| ENST00000599996.1:c.476-4448T>C | ||
| ENST00000600042.5:c.-12T>C (SARS2) | ENSP00000472847.1:n.-12T>C | |
| NM_001145901.1:c.-12T>C (SARS2) | NP_001139373.1:n.-12T>C | |
| NM_017827.3:c.-12T>C (SARS2) | NP_060297.1:n.-12T>C | |
| NM_033362.3:c.-270A>G (MRPS12) | NP_203526.1:n.-270A>G | |
| NM_001145901.2:c.-12T>C (SARS2) | NP_001139373.1:n.-12T>C | |
| NM_017827.4:c.-12T>C (SARS2) MANE Select | NP_060297.1:n.-12T>C |