Linked Data
ClinVar Variation Id:
14859
ClinVar RCV Id:
RCV000015984
dbSNP Id:
rs121912549
gnomAD v4:
7-157006487-C-A
PubMed:
PMID:16906559
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.157006487C>A , CM000669.2:g.157006487C>A | GRCh38 |
| NC_000007.13:g.156799181C>A , CM000669.1:g.156799181C>A | GRCh37 |
| NC_000007.12:g.156491942C>A | NCBI36 |
| NG_013212.1:g.9167G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252971.11:c.844G>T (MNX1) MANE Select | ENSP00000252971.5:p.Glu282Ter | |
| ENST00000252971.10:c.844G>T (MNX1) | ENSP00000252971.5:p.Glu282Ter | |
| ENST00000425745.1:c.56-614G>T (MNX1) | ENSP00000416458.1:n.56-614G>T | |
| ENST00000428439.1:c.208G>T (MNX1) | ENSP00000401158.1:p.Glu70Ter | |
| ENST00000469500.5:c.55+2511G>T (MNX1) | ENSP00000475129.1:n.55+2511G>T | |
| ENST00000474448.1:c.*246G>T (MNX1) | ENSP00000473965.1:n.*246G>T | |
| ENST00000479817.1:c.38+3173G>T (MNX1) | ||
| ENST00000543409.5:c.208G>T (MNX1) | ENSP00000438552.1:p.Glu70Ter | |
| NM_001165255.1:c.208G>T (MNX1) | NP_001158727.1:p.Glu70Ter | |
| NM_005515.3:c.844G>T (MNX1) | NP_005506.3:p.Glu282Ter | |
| XR_928257.1:n.544+63C>A (MNX1-AS2) | ||
| NR_147077.1:n.118+63C>A (MNX1-AS2) | ||
| NM_005515.4:c.844G>T (MNX1) MANE Select | NP_005506.3:p.Glu282Ter | |
| NM_001165255.2:c.208G>T (MNX1) | NP_001158727.1:p.Glu70Ter |