Linked Data
ClinVar Variation Id:
305052
ClinVar RCV Id:
RCV000404815
dbSNP Id:
rs775592054
gnomAD v2:
11-61129738-G-A
gnomAD v3:
11-61362266-G-A
gnomAD v4:
11-61362266-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61362266G>A , CM000673.2:g.61362266G>A | GRCh38 |
| NC_000011.9:g.61129738G>A , CM000673.1:g.61129738G>A | GRCh37 |
| NC_000011.8:g.60886314G>A | NCBI36 |
| NG_032581.1:g.5266G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451389.7:c.-294G>A (TMEM138) | ENSP00000508581.1:n.-294G>A | |
| ENST00000540194.6:n.114G>A (TMEM138) | ||
| ENST00000542946.2:c.-294G>A (TMEM138) | ENSP00000445792.1:n.-294G>A | |
| ENST00000685597.1:c.-294G>A (TMEM138) | ENSP00000509403.1:n.-294G>A | |
| ENST00000689076.1:c.-294G>A (TMEM138) | ENSP00000508469.1:n.-294G>A | |
| ENST00000692667.1:c.-294G>A (TMEM138) | ENSP00000510180.1:n.-294G>A | |
| ENST00000692785.1:c.-294G>A (TMEM138) | ENSP00000509310.1:n.-294G>A | |
| ENST00000693557.1:c.-294G>A (TMEM138) | ENSP00000508970.1:n.-294G>A | |
| ENST00000278826.10:c.-294G>A (TMEM138) | ENSP00000278826.5:n.-294G>A | |
| ENST00000294072.8:c.-645C>T (CYB561A3) | ENSP00000294072.3:n.-645C>T | |
| ENST00000426130.6:c.-763C>T (CYB561A3) | ENSP00000398979.2:n.-763C>T | |
| ENST00000536687.1:n.6C>T (CYB561A3) | ||
| NM_001161454.1:c.-763C>T (CYB561A3) | NP_001154926.1:n.-763C>T | |
| NM_001300763.1:c.-645C>T (CYB561A3) | NP_001287692.1:n.-645C>T | |
| NM_016464.4:c.-294G>A (TMEM138) | NP_057548.1:n.-294G>A | |
| NM_153611.4:c.-645C>T (CYB561A3) | NP_705839.3:n.-645C>T | |
| NR_028473.1:n.266G>A (TMEM138) | ||
| XM_011544821.1:c.-763C>T (CYB561A3) | XP_011543123.1:n.-763C>T | |
| XM_011544822.1:c.-791C>T (CYB561A3) | XP_011543124.1:n.-791C>T | |
| XM_011544823.1:c.-549C>T (CYB561A3) | XP_011543125.1:n.-549C>T | |
| XM_011544824.1:c.-763C>T (CYB561A3) | XP_011543126.1:n.-763C>T | |
| XM_011544825.1:c.-1191C>T (CYB561A3) | XP_011543127.1:n.-1191C>T | |
| XR_949828.1:n.34C>T (CYB561A3) | ||
| NM_001330281.1:c.-265G>A (TMEM138) | NP_001317210.1:n.-265G>A | |
| XM_011544821.2:c.-763C>T (CYB561A3) | XP_011543123.1:n.-763C>T | |
| XM_024448399.1:c.-763C>T (CYB561A3) | XP_024304167.1:n.-763C>T |