Linked Data
ClinVar Variation Id:
3131716
ClinVar RCV Id:
RCV004418575
dbSNP Id:
rs569023913
ExAC:
4:667731 G / A
gnomAD v2:
4-667731-G-A
gnomAD v3:
4-673942-G-A
gnomAD v4:
4-673942-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.673942G>A , CM000666.2:g.673942G>A | GRCh38 |
| NC_000004.11:g.667731G>A , CM000666.1:g.667731G>A | GRCh37 |
| NC_000004.10:g.657731G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304312.5:c.61C>T (ATP5ME) MANE Select | ENSP00000306003.4:p.Leu21Phe | |
| ENST00000304312.4:c.61C>T (ATP5ME) | ENSP00000306003.4:p.Leu21Phe | |
| ENST00000505477.5:c.-156G>A (MYL5) | ENSP00000423118.1:n.-156G>A | |
| ENST00000505852.1:n.119+270C>T (ATP5ME) | ||
| ENST00000506838.5:c.-2162G>A (MYL5) | ENSP00000427153.1:n.-2162G>A | |
| ENST00000515202.5:n.180C>T (ATP5ME) | ||
| NM_007100.3:c.61C>T (ATP5ME) | NP_009031.1:p.Leu21Phe | |
| NR_033743.1:n.127+270C>T (ATP5ME) | ||
| NM_007100.4:c.61C>T (ATP5ME) MANE Select | NP_009031.1:p.Leu21Phe | |
| NR_033743.2:n.65+270C>T (ATP5ME) |