Linked Data
ClinVar Variation Id:
1766833
ClinVar RCV Id:
RCV004056770
dbSNP Id:
rs1460262714
gnomAD v3:
12-98515960-G-A
gnomAD v4:
12-98515960-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.98515960G>A , CM000674.2:g.98515960G>A | GRCh38 |
| NC_000012.11:g.98909738G>A , CM000674.1:g.98909738G>A | GRCh37 |
| NC_000012.10:g.97433869G>A | NCBI36 |
| NG_021393.1:g.5388G>A , LRG_443:g.5388G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556029.6:c.93G>A (TMPO) MANE Select | ENSP00000450627.1:p.Glu31= | |
| ENST00000261210.9:c.93G>A (TMPO) | ENSP00000261210.5:p.Glu31= | |
| ENST00000266732.8:c.93G>A (TMPO) | ENSP00000266732.4:p.Glu31= | |
| ENST00000343315.9:c.93G>A (TMPO) | ENSP00000340251.5:p.Glu31= | |
| ENST00000393053.6:c.93G>A (TMPO) | ENSP00000376773.2:p.Glu31= | |
| ENST00000546828.6:n.155-4G>A (TMPO) | ||
| ENST00000548911.1:n.237-11G>A (TMPO) | ||
| ENST00000556029.5:c.93G>A (TMPO) | ENSP00000450627.1:p.Glu31= | |
| NM_001032283.2:c.93G>A , LRG_443t1:c.93G>A (TMPO) | NP_001027454.1:p.Glu31= | |
| NM_001032284.2:c.93G>A (TMPO) | NP_001027455.1:p.Glu31= | |
| NM_001307975.1:c.93G>A (TMPO) | NP_001294904.1:p.Glu31= | |
| NM_003276.2:c.93G>A , LRG_443t2:c.93G>A (TMPO) | NP_003267.1:p.Glu31= | |
| NR_027157.1:n.236+31C>T (TMPO-AS1) | ||
| XM_005269132.2:c.93G>A (TMPO) | XP_005269189.1:p.Glu31= | |
| XM_005269132.4:c.93G>A (TMPO) | XP_005269189.1:p.Glu31= | |
| NM_001032283.3:c.93G>A (TMPO) MANE Select | NP_001027454.1:p.Glu31= | |
| NM_001032284.3:c.93G>A (TMPO) | NP_001027455.1:p.Glu31= | |
| NM_001307975.2:c.93G>A (TMPO) | NP_001294904.1:p.Glu31= |