Linked Data
ClinVar Variation Id:
180547
dbSNP Id:
rs730880228
ExAC:
12:98909893 C / T
gnomAD v2:
12-98909893-C-T
gnomAD v3:
12-98516115-C-T
gnomAD v4:
12-98516115-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.98516115C>T , CM000674.2:g.98516115C>T | GRCh38 |
| NC_000012.11:g.98909893C>T , CM000674.1:g.98909893C>T | GRCh37 |
| NC_000012.10:g.97434024C>T | NCBI36 |
| NG_021393.1:g.5543C>T , LRG_443:g.5543C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556029.6:c.248C>T (TMPO) MANE Select | ENSP00000450627.1:p.Ala83Val | |
| ENST00000261210.9:c.248C>T (TMPO) | ENSP00000261210.5:p.Ala83Val | |
| ENST00000266732.8:c.248C>T (TMPO) | ENSP00000266732.4:p.Ala83Val | |
| ENST00000343315.9:c.248C>T (TMPO) | ENSP00000340251.5:p.Ala83Val | |
| ENST00000393053.6:c.248C>T (TMPO) | ENSP00000376773.2:p.Ala83Val | |
| ENST00000546828.6:n.306C>T (TMPO) | ||
| ENST00000548911.1:n.381C>T (TMPO) | ||
| ENST00000556029.5:c.248C>T (TMPO) | ENSP00000450627.1:p.Ala83Val | |
| NM_001032283.2:c.248C>T , LRG_443t1:c.248C>T (TMPO) | NP_001027454.1:p.Ala83Val | |
| NM_001032284.2:c.248C>T (TMPO) | NP_001027455.1:p.Ala83Val | |
| NM_001307975.1:c.248C>T (TMPO) | NP_001294904.1:p.Ala83Val | |
| NM_003276.2:c.248C>T , LRG_443t2:c.248C>T (TMPO) | NP_003267.1:p.Ala83Val | |
| NR_027157.1:n.112G>A (TMPO-AS1) | ||
| XM_005269132.2:c.248C>T (TMPO) | XP_005269189.1:p.Ala83Val | |
| XM_005269132.4:c.248C>T (TMPO) | XP_005269189.1:p.Ala83Val | |
| NM_001032283.3:c.248C>T (TMPO) MANE Select | NP_001027454.1:p.Ala83Val | |
| NM_001032284.3:c.248C>T (TMPO) | NP_001027455.1:p.Ala83Val | |
| NM_001307975.2:c.248C>T (TMPO) | NP_001294904.1:p.Ala83Val |