Linked Data
ClinVar Variation Id:
305051
ClinVar RCV Id:
RCV000334824
dbSNP Id:
rs548180077
gnomAD v2:
11-61129728-C-A
gnomAD v3:
11-61362256-C-A
gnomAD v4:
11-61362256-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61362256C>A , CM000673.2:g.61362256C>A | GRCh38 |
| NC_000011.9:g.61129728C>A , CM000673.1:g.61129728C>A | GRCh37 |
| NC_000011.8:g.60886304C>A | NCBI36 |
| NG_032581.1:g.5256C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451389.7:c.-304C>A (TMEM138) | ENSP00000508581.1:n.-304C>A | |
| ENST00000540194.6:n.104C>A (TMEM138) | ||
| ENST00000542946.2:c.-304C>A (TMEM138) | ENSP00000445792.1:n.-304C>A | |
| ENST00000685597.1:c.-304C>A (TMEM138) | ENSP00000509403.1:n.-304C>A | |
| ENST00000689076.1:c.-304C>A (TMEM138) | ENSP00000508469.1:n.-304C>A | |
| ENST00000692667.1:c.-304C>A (TMEM138) | ENSP00000510180.1:n.-304C>A | |
| ENST00000692785.1:c.-304C>A (TMEM138) | ENSP00000509310.1:n.-304C>A | |
| ENST00000693557.1:c.-304C>A (TMEM138) | ENSP00000508970.1:n.-304C>A | |
| ENST00000278826.10:c.-304C>A (TMEM138) | ENSP00000278826.5:n.-304C>A | |
| ENST00000294072.8:c.-635G>T (CYB561A3) | ENSP00000294072.3:n.-635G>T | |
| ENST00000426130.6:c.-753G>T (CYB561A3) | ENSP00000398979.2:n.-753G>T | |
| ENST00000536687.1:n.16G>T (CYB561A3) | ||
| ENST00000537680.5:c.-448G>T (CYB561A3) | ENSP00000439702.1:n.-448G>T | |
| NM_001161454.1:c.-753G>T (CYB561A3) | NP_001154926.1:n.-753G>T | |
| NM_001300763.1:c.-635G>T (CYB561A3) | NP_001287692.1:n.-635G>T | |
| NM_016464.4:c.-304C>A (TMEM138) | NP_057548.1:n.-304C>A | |
| NM_153611.4:c.-635G>T (CYB561A3) | NP_705839.3:n.-635G>T | |
| NR_028473.1:n.256C>A (TMEM138) | ||
| XM_011544821.1:c.-753G>T (CYB561A3) | XP_011543123.1:n.-753G>T | |
| XM_011544822.1:c.-781G>T (CYB561A3) | XP_011543124.1:n.-781G>T | |
| XM_011544823.1:c.-539G>T (CYB561A3) | XP_011543125.1:n.-539G>T | |
| XM_011544824.1:c.-753G>T (CYB561A3) | XP_011543126.1:n.-753G>T | |
| XM_011544825.1:c.-1181G>T (CYB561A3) | XP_011543127.1:n.-1181G>T | |
| XR_949828.1:n.44G>T (CYB561A3) | ||
| NM_001330281.1:c.-275C>A (TMEM138) | NP_001317210.1:n.-275C>A | |
| XM_011544821.2:c.-753G>T (CYB561A3) | XP_011543123.1:n.-753G>T | |
| XM_024448398.1:c.-753G>T (CYB561A3) | XP_024304166.1:n.-753G>T | |
| XM_024448399.1:c.-753G>T (CYB561A3) | XP_024304167.1:n.-753G>T |