Linked Data
ClinVar Variation Id:
2285781
ClinVar RCV Id:
RCV004138821
dbSNP Id:
rs1462786279
gnomAD v2:
15-90167236-C-T
gnomAD v4:
15-89624005-C-T
COSMIC:
COSM4819435
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89624005C>T , CM000677.2:g.89624005C>T | GRCh38 |
| NC_000015.9:g.90167236C>T , CM000677.1:g.90167236C>T | GRCh37 |
| NC_000015.8:g.87968240C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268138.12:c.3695C>T (TICRR) MANE Select | ENSP00000268138.7:p.Ser1232Leu | |
| ENST00000268138.11:c.3695C>T (TICRR) | ENSP00000268138.7:p.Ser1232Leu | |
| ENST00000558928.1:n.180+4596G>A (KIF7) | ||
| ENST00000560985.5:c.3692C>T (TICRR) | ENSP00000453306.1:p.Ser1231Leu | |
| NM_001308025.1:c.3692C>T (TICRR) | NP_001294954.1:p.Ser1231Leu | |
| NM_152259.3:c.3695C>T (TICRR) | NP_689472.3:p.Ser1232Leu | |
| XM_011521534.1:c.3973+4596G>A (KIF7) | XP_011519836.1:n.3973+4596G>A | |
| XM_011521535.1:c.3973+4596G>A (KIF7) | XP_011519837.1:n.3973+4596G>A | |
| XM_011521536.1:c.3974-4123G>A (KIF7) | XP_011519838.1:n.3974-4123G>A | |
| XM_011522162.1:c.3695C>T (TICRR) | XP_011520464.1:p.Ser1232Leu | |
| NM_152259.4:c.3695C>T (TICRR) MANE Select | NP_689472.3:p.Ser1232Leu |