Linked Data
ClinVar Variation Id:
397639
ClinVar RCV Id:
RCV000449637
dbSNP Id:
rs1060499555
PubMed:
PMID:27243668
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209801301A>G , CM000663.2:g.209801301A>G | GRCh38 |
| NC_000001.10:g.209974646A>G , CM000663.1:g.209974646A>G | GRCh37 |
| NC_000001.9:g.208041269A>G | NCBI36 |
| NG_007081.2:g.9834T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696133.1:c.113T>C | ENSP00000512426.1:p.Ile38Thr | |
| ENST00000696134.1:c.113T>C | ENSP00000512427.1:p.Ile38Thr | |
| ENST00000367021.8:c.113T>C MANE Select | ENSP00000355988.3:p.Ile38Thr | |
| ENST00000643798.1:c.113T>C | ENSP00000496669.1:p.Ile38Thr | |
| ENST00000367021.7:c.113T>C | ENSP00000355988.3:p.Ile38Thr | |
| ENST00000456314.1:c.113T>C | ENSP00000403855.1:p.Ile38Thr | |
| ENST00000542854.5:c.-112+4646T>C | ENSP00000440532.1:n.-112+4646T>C | |
| NM_001206696.1:c.-112+4646T>C | NP_001193625.1:n.-112+4646T>C | |
| NM_006147.3:c.113T>C | NP_006138.1:p.Ile38Thr | |
| NM_006147.4:c.113T>C MANE Select | NP_006138.1:p.Ile38Thr | |
| NM_001206696.2:c.-112+4646T>C | NP_001193625.1:n.-112+4646T>C |