Linked Data
ClinVar Variation Id:
189164
dbSNP Id:
rs752807925
ExAC:
7:107344827 C / T
gnomAD v2:
7-107344827-C-T
gnomAD v4:
7-107704382-C-T
COSMIC:
COSM4476672
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107704382C>T , CM000669.2:g.107704382C>T | GRCh38 |
| NC_000007.13:g.107344827C>T , CM000669.1:g.107344827C>T | GRCh37 |
| NC_000007.12:g.107132063C>T | NCBI36 |
| NG_008489.1:g.48748C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.2086C>T MANE Select | ENSP00000494017.1:p.Gln696Ter | |
| ENST00000644846.1:c.745+2325C>T | ||
| ENST00000265715.7:c.2086C>T | ENSP00000265715.3:p.Gln696Ter | |
| ENST00000492030.2:n.373C>T | ||
| NM_000441.1:c.2086C>T | NP_000432.1:p.Gln696Ter | |
| XM_005250425.1:c.2086C>T | XP_005250482.1:p.Gln696Ter | |
| XM_005250425.2:c.2086C>T | XP_005250482.1:p.Gln696Ter | |
| XM_017012318.1:c.2008C>T | XP_016867807.1:p.Gln670Ter | |
| NM_000441.2:c.2086C>T MANE Select | NP_000432.1:p.Gln696Ter |