Linked Data
ClinVar Variation Id:
39274
dbSNP Id:
rs199476196
ExAC:
4:187122483 C / T
gnomAD v2:
4-187122483-C-T
gnomAD v3:
4-186201329-C-T
gnomAD v4:
4-186201329-C-T
COSMIC:
COSM230559
PubMed:
PMID:22497028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186201329C>T , CM000666.2:g.186201329C>T | GRCh38 |
| NC_000004.11:g.187122483C>T , CM000666.1:g.187122483C>T | GRCh37 |
| NC_000004.10:g.187359477C>T | NCBI36 |
| NG_007965.1:g.14810C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.974C>T MANE Select | ENSP00000368079.4:p.Thr325Ile | |
| ENST00000378802.4:c.974C>T | ENSP00000368079.4:p.Thr325Ile | |
| ENST00000507209.5:n.1815C>T | ||
| NM_207352.3:c.974C>T | NP_997235.3:p.Thr325Ile | |
| XM_005262935.2:c.974C>T | XP_005262992.1:p.Thr325Ile | |
| XM_006714184.2:c.578C>T | XP_006714247.1:p.Thr193Ile | |
| XM_005262935.4:c.974C>T | XP_005262992.1:p.Thr325Ile | |
| XM_017008037.1:c.578C>T | XP_016863526.1:p.Thr193Ile | |
| NM_207352.4:c.974C>T MANE Select | NP_997235.3:p.Thr325Ile |