Linked Data
ClinVar Variation Id:
1698103
ClinVar RCV Id:
RCV002269526
dbSNP Id:
rs777200341
ExAC:
19:5680497 T / C
gnomAD v2:
19-5680497-T-C
gnomAD v3:
19-5680486-T-C
gnomAD v4:
19-5680486-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.5680486T>C , CM000681.2:g.5680486T>C | GRCh38 |
| NC_000019.9:g.5680497T>C , CM000681.1:g.5680497T>C | GRCh37 |
| NC_000019.8:g.5631497T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309324.9:c.1A>G (MICOS13) MANE Select | ENSP00000309561.3:p.Met1Val | |
| ENST00000309324.8:c.1A>G (MICOS13) | ENSP00000309561.3:p.Met1Val | |
| ENST00000579649.5:c.-60+5514T>C (RPL36) | ENSP00000462609.1:n.-60+5514T>C | |
| ENST00000587589.1:c.1A>G (MICOS13) | ENSP00000464857.1:p.Met1Val | |
| ENST00000590075.1:n.25A>G (MICOS13) | ||
| NM_001308240.1:c.-130A>G (MICOS13) | NP_001295169.1:n.-130A>G | |
| NM_205767.1:c.1A>G (MICOS13) | NP_991330.1:p.Met1Val | |
| NM_205767.2:c.1A>G (MICOS13) | NP_991330.1:p.Met1Val | |
| NM_001308240.2:c.-130A>G (MICOS13) | NP_001295169.1:n.-130A>G | |
| NM_205767.3:c.1A>G (MICOS13) MANE Select | NP_991330.1:p.Met1Val |