Linked Data
ClinVar Variation Id:
35469
ClinVar RCV Id:
RCV000029144
dbSNP Id:
rs387907214
PubMed:
PMID:21990100
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.177521274C>T , CM000664.2:g.177521274C>T | GRCh38 |
| NC_000002.11:g.178386002C>T , CM000664.1:g.178386002C>T | GRCh37 |
| NC_000002.10:g.178094248C>T | NCBI36 |
| NG_008968.1:g.133532C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264167.11:c.1703C>T MANE Select | ENSP00000264167.4:p.Thr568Met | |
| ENST00000637633.2:c.1703C>T | ENSP00000490844.2:p.Thr568Met | |
| ENST00000642466.2:c.1703C>T | ENSP00000494433.2:p.Thr568Met | |
| ENST00000679421.1:n.2932C>T | ||
| ENST00000679459.1:c.1703C>T | ENSP00000506137.1:p.Thr568Met | |
| ENST00000679478.1:c.1433C>T | ENSP00000506484.1:p.Thr478Met | |
| ENST00000679994.1:c.1433C>T | ENSP00000504957.1:p.Thr478Met | |
| ENST00000680028.1:n.3067C>T | ||
| ENST00000680155.1:c.1433C>T | ENSP00000505333.1:p.Thr478Met | |
| ENST00000680390.1:n.738C>T | ||
| ENST00000680770.1:c.1703C>T | ENSP00000505536.1:p.Thr568Met | |
| ENST00000680893.1:c.*951C>T | ENSP00000505929.1:n.*951C>T | |
| ENST00000681028.1:c.*130C>T | ENSP00000506323.1:n.*130C>T | |
| ENST00000681032.1:c.*1081C>T | ENSP00000505205.1:n.*1081C>T | |
| ENST00000681300.1:n.658C>T | ||
| ENST00000681449.1:c.1433C>T | ENSP00000505342.1:p.Thr478Met | |
| ENST00000681565.1:c.*836C>T | ENSP00000505620.1:n.*836C>T | |
| ENST00000681752.1:c.*1473C>T | ENSP00000504994.1:n.*1473C>T | |
| ENST00000681891.1:n.5338C>T | ||
| ENST00000264167.8:c.1703C>T | ENSP00000264167.4:p.Thr568Met | |
| ENST00000409888.1:c.351-55C>T | ENSP00000386688.1:n.351-55C>T | |
| NM_003659.3:c.1703C>T | NP_003650.1:p.Thr568Met | |
| XM_011512041.1:c.1433C>T | XP_011510343.1:p.Thr478Met | |
| XM_011512042.1:c.1433C>T | XP_011510344.1:p.Thr478Met | |
| XM_011512043.1:c.968C>T | XP_011510345.1:p.Thr323Met | |
| XM_011512041.2:c.1433C>T | XP_011510343.1:p.Thr478Met | |
| XM_011512043.2:c.968C>T | XP_011510345.1:p.Thr323Met | |
| XR_001739007.2:n.1611C>T | ||
| NM_003659.4:c.1703C>T MANE Select | NP_003650.1:p.Thr568Met |