Linked Data
ClinVar Variation Id:
2461302
ClinVar RCV Id:
RCV004251559
dbSNP Id:
rs376690498
ExAC:
15:90168660 G / A
gnomAD v2:
15-90168660-G-A
gnomAD v3:
15-89625429-G-A
gnomAD v4:
15-89625429-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89625429G>A , CM000677.2:g.89625429G>A | GRCh38 |
| NC_000015.9:g.90168660G>A , CM000677.1:g.90168660G>A | GRCh37 |
| NC_000015.8:g.87969664G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268138.12:c.5119G>A (TICRR) MANE Select | ENSP00000268138.7:p.Ala1707Thr | |
| ENST00000268138.11:c.5119G>A (TICRR) | ENSP00000268138.7:p.Ala1707Thr | |
| ENST00000558928.1:n.180+3172C>T (KIF7) | ||
| ENST00000560985.5:c.5116G>A (TICRR) | ENSP00000453306.1:p.Ala1706Thr | |
| ENST00000561095.1:c.30G>A (TICRR) | ||
| NM_001308025.1:c.5116G>A (TICRR) | NP_001294954.1:p.Ala1706Thr | |
| NM_152259.3:c.5119G>A (TICRR) | NP_689472.3:p.Ala1707Thr | |
| XM_011521534.1:c.3973+3172C>T (KIF7) | XP_011519836.1:n.3973+3172C>T | |
| XM_011521535.1:c.3973+3172C>T (KIF7) | XP_011519837.1:n.3973+3172C>T | |
| XM_011521536.1:c.3973+3172C>T (KIF7) | XP_011519838.1:n.3973+3172C>T | |
| XM_011522162.1:c.5119G>A (TICRR) | XP_011520464.1:p.Ala1707Thr | |
| NM_152259.4:c.5119G>A (TICRR) MANE Select | NP_689472.3:p.Ala1707Thr |