Linked Data
ClinVar Variation Id:
305047
ClinVar RCV Id:
RCV000283166
dbSNP Id:
rs530037192
gnomAD v3:
11-61362042-C-T
gnomAD v4:
11-61362042-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61362042C>T , CM000673.2:g.61362042C>T | GRCh38 |
| NC_000011.9:g.61129514C>T , CM000673.1:g.61129514C>T | GRCh37 |
| NC_000011.8:g.60886090C>T | NCBI36 |
| NG_032581.1:g.5042C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542946.2:c.-518C>T (TMEM138) | ENSP00000445792.1:n.-518C>T | |
| ENST00000689076.1:c.-518C>T (TMEM138) | ENSP00000508469.1:n.-518C>T | |
| ENST00000278826.10:c.-518C>T (TMEM138) | ENSP00000278826.5:n.-518C>T | |
| ENST00000294072.8:c.-421G>A (CYB561A3) | ENSP00000294072.3:n.-421G>A | |
| ENST00000426130.6:c.-539G>A (CYB561A3) | ENSP00000398979.2:n.-539G>A | |
| ENST00000535152.1:n.207G>A (CYB561A3) | ||
| ENST00000536687.1:n.230G>A (CYB561A3) | ||
| ENST00000537680.5:c.-234G>A (CYB561A3) | ENSP00000439702.1:n.-234G>A | |
| NM_001161454.1:c.-539G>A (CYB561A3) | NP_001154926.1:n.-539G>A | |
| NM_001300763.1:c.-421G>A (CYB561A3) | NP_001287692.1:n.-421G>A | |
| NM_016464.4:c.-518C>T (TMEM138) | NP_057548.1:n.-518C>T | |
| NM_153611.4:c.-421G>A (CYB561A3) | NP_705839.3:n.-421G>A | |
| NR_028473.1:n.42C>T (TMEM138) | ||
| XM_011544821.1:c.-539G>A (CYB561A3) | XP_011543123.1:n.-539G>A | |
| XM_011544822.1:c.-567G>A (CYB561A3) | XP_011543124.1:n.-567G>A | |
| XM_011544823.1:c.-325G>A (CYB561A3) | XP_011543125.1:n.-325G>A | |
| XM_011544824.1:c.-539G>A (CYB561A3) | XP_011543126.1:n.-539G>A | |
| XM_011544825.1:c.-967G>A (CYB561A3) | XP_011543127.1:n.-967G>A | |
| XR_949828.1:n.258G>A (CYB561A3) | ||
| NM_001330281.1:c.-489C>T (TMEM138) | NP_001317210.1:n.-489C>T | |
| XM_011544821.2:c.-539G>A (CYB561A3) | XP_011543123.1:n.-539G>A | |
| XM_024448398.1:c.-539G>A (CYB561A3) | XP_024304166.1:n.-539G>A | |
| XM_024448399.1:c.-539G>A (CYB561A3) | XP_024304167.1:n.-539G>A |