Linked Data
ClinVar Variation Id:
327880
dbSNP Id:
rs143576401
ExAC:
18:9124948 C / T
gnomAD v2:
18-9124948-C-T
gnomAD v3:
18-9124950-C-T
gnomAD v4:
18-9124950-C-T
COSMIC:
COSM2149139
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.9124950C>T , CM000680.2:g.9124950C>T | GRCh38 |
| NC_000018.9:g.9124948C>T , CM000680.1:g.9124948C>T | GRCh37 |
| NC_000018.8:g.9114948C>T | NCBI36 |
| NG_013355.1:g.27321C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318388.11:c.546C>T (NDUFV2) MANE Select | ENSP00000327268.6:p.Asn182= | |
| ENST00000318388.10:c.546C>T (NDUFV2) | ENSP00000327268.6:p.Asn182= | |
| ENST00000400033.1:c.555C>T (NDUFV2) | ENSP00000382908.1:p.Asn185= | |
| ENST00000465096.5:n.364C>T (NDUFV2) | ||
| NM_021074.4:c.546C>T (NDUFV2) | NP_066552.2:p.Asn182= | |
| NR_110771.1:n.654-3494G>A (NDUFV2-AS1) | ||
| NR_110772.1:n.478-3494G>A (NDUFV2-AS1) | ||
| XR_243808.1:n.648C>T (NDUFV2) | ||
| XM_017025782.1:c.459C>T (NDUFV2) | XP_016881271.1:p.Asn153= | |
| XR_002958175.1:n.2840C>T (NDUFV2) | ||
| XR_243808.3:n.563C>T (NDUFV2) | ||
| NM_021074.5:c.546C>T (NDUFV2) MANE Select | NP_066552.2:p.Asn182= |