Linked Data
ClinVar Variation Id:
3177394
ClinVar RCV Id:
RCV004467236
dbSNP Id:
rs1401929637
gnomAD v2:
15-90168739-C-A
gnomAD v3:
15-89625508-C-A
gnomAD v4:
15-89625508-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89625508C>A , CM000677.2:g.89625508C>A | GRCh38 |
| NC_000015.9:g.90168739C>A , CM000677.1:g.90168739C>A | GRCh37 |
| NC_000015.8:g.87969743C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268138.12:c.5198C>A (TICRR) MANE Select | ENSP00000268138.7:p.Pro1733His | |
| ENST00000268138.11:c.5198C>A (TICRR) | ENSP00000268138.7:p.Pro1733His | |
| ENST00000558928.1:n.180+3093G>T (KIF7) | ||
| ENST00000560985.5:c.5195C>A (TICRR) | ENSP00000453306.1:p.Pro1732His | |
| ENST00000561095.1:c.109C>A (TICRR) | ||
| NM_001308025.1:c.5195C>A (TICRR) | NP_001294954.1:p.Pro1732His | |
| NM_152259.3:c.5198C>A (TICRR) | NP_689472.3:p.Pro1733His | |
| XM_011521534.1:c.3973+3093G>T (KIF7) | XP_011519836.1:n.3973+3093G>T | |
| XM_011521535.1:c.3973+3093G>T (KIF7) | XP_011519837.1:n.3973+3093G>T | |
| XM_011521536.1:c.3973+3093G>T (KIF7) | XP_011519838.1:n.3973+3093G>T | |
| XM_011522162.1:c.5198C>A (TICRR) | XP_011520464.1:p.Pro1733His | |
| NM_152259.4:c.5198C>A (TICRR) MANE Select | NP_689472.3:p.Pro1733His |