Linked Data
ClinVar Variation Id:
6646
ClinVar RCV Id:
RCV000007025
dbSNP Id:
rs121434412
gnomAD v3:
2-177461948-C-T
gnomAD v4:
2-177461948-C-T
PubMed:
PMID:11152660
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.177461948C>T , CM000664.2:g.177461948C>T | GRCh38 |
| NC_000002.11:g.178326676C>T , CM000664.1:g.178326676C>T | GRCh37 |
| NC_000002.10:g.178034922C>T | NCBI36 |
| NG_008968.1:g.74206C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264167.11:c.926C>T MANE Select | ENSP00000264167.4:p.Thr309Ile | |
| ENST00000460342.2:n.2338C>T | ||
| ENST00000637633.2:c.926C>T | ENSP00000490844.2:p.Thr309Ile | |
| ENST00000642466.2:c.926C>T | ENSP00000494433.2:p.Thr309Ile | |
| ENST00000679421.1:n.2155C>T | ||
| ENST00000679459.1:c.926C>T | ENSP00000506137.1:p.Thr309Ile | |
| ENST00000679478.1:c.656C>T | ENSP00000506484.1:p.Thr219Ile | |
| ENST00000679639.1:n.729C>T | ||
| ENST00000679994.1:c.656C>T | ENSP00000504957.1:p.Thr219Ile | |
| ENST00000680028.1:n.2290C>T | ||
| ENST00000680155.1:c.656C>T | ENSP00000505333.1:p.Thr219Ile | |
| ENST00000680705.1:n.970C>T | ||
| ENST00000680770.1:c.926C>T | ENSP00000505536.1:p.Thr309Ile | |
| ENST00000680893.1:c.*174C>T | ENSP00000505929.1:n.*174C>T | |
| ENST00000680910.1:n.956C>T | ||
| ENST00000681028.1:c.656C>T | ENSP00000506323.1:p.Thr219Ile | |
| ENST00000681032.1:c.*304C>T | ENSP00000505205.1:n.*304C>T | |
| ENST00000681449.1:c.656C>T | ENSP00000505342.1:p.Thr219Ile | |
| ENST00000681565.1:c.926C>T | ENSP00000505620.1:p.Thr309Ile | |
| ENST00000681752.1:c.*696C>T | ENSP00000504994.1:n.*696C>T | |
| ENST00000681891.1:n.4670C>T | ||
| ENST00000264167.8:c.926C>T | ENSP00000264167.4:p.Thr309Ile | |
| ENST00000409888.1:c.350+41590C>T | ENSP00000386688.1:n.350+41590C>T | |
| NM_003659.3:c.926C>T | NP_003650.1:p.Thr309Ile | |
| XM_011512041.1:c.656C>T | XP_011510343.1:p.Thr219Ile | |
| XM_011512042.1:c.656C>T | XP_011510344.1:p.Thr219Ile | |
| XM_011512043.1:c.191C>T | XP_011510345.1:p.Thr64Ile | |
| XM_011512044.1:c.926C>T | XP_011510346.1:p.Thr309Ile | |
| XM_011512045.1:c.926C>T | XP_011510347.1:p.Thr309Ile | |
| XM_011512041.2:c.656C>T | XP_011510343.1:p.Thr219Ile | |
| XM_011512043.2:c.191C>T | XP_011510345.1:p.Thr64Ile | |
| XR_001739007.2:n.943C>T | ||
| NM_003659.4:c.926C>T MANE Select | NP_003650.1:p.Thr309Ile |