Linked Data
ClinVar Variation Id:
2474360
ClinVar RCV Id:
RCV004266672
dbSNP Id:
rs377493703
ExAC:
1:202097407 C / T
gnomAD v2:
1-202097407-C-T
gnomAD v3:
1-202128279-C-T
gnomAD v4:
1-202128279-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202128279C>T , CM000663.2:g.202128279C>T | GRCh38 |
| NC_000001.10:g.202097407C>T , CM000663.1:g.202097407C>T | GRCh37 |
| NC_000001.9:g.200364030C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682422.1:n.750C>T | ||
| ENST00000682545.1:c.*175C>T | ENSP00000508402.1:n.*175C>T | |
| ENST00000682887.1:c.1570C>T | ENSP00000506946.1:n.1570C>T | |
| ENST00000683302.1:c.1100C>T | ENSP00000507885.1:p.Thr367Ile | |
| ENST00000683557.1:c.*1C>T | ENSP00000508029.1:n.*1C>T | |
| ENST00000367282.6:c.1169C>T MANE Select | ENSP00000356251.4:p.Thr390Ile | |
| ENST00000367282.5:c.1169C>T | ENSP00000356251.4:p.Thr390Ile | |
| NM_004767.3:c.1169C>T | NP_004758.3:p.Thr390Ile | |
| XM_011510158.1:c.608C>T | XP_011508460.1:p.Thr203Ile | |
| NM_004767.4:c.1169C>T | NP_004758.3:p.Thr390Ile | |
| XM_011510158.2:c.608C>T | XP_011508460.1:p.Thr203Ile | |
| NM_004767.5:c.1169C>T MANE Select | NP_004758.3:p.Thr390Ile |