Linked Data
ClinVar Variation Id:
2681
dbSNP Id:
rs137852841
COSMIC:
COSM1090028
PubMed:
PMID:14624391
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45064493C>T , CM000669.2:g.45064493C>T | GRCh38 |
| NC_000007.13:g.45104092C>T , CM000669.1:g.45104092C>T | GRCh37 |
| NC_000007.12:g.45070617C>T | NCBI36 |
| NG_016295.1:g.69306C>T , LRG_664:g.69306C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258781.11:c.319C>T MANE Select | ENSP00000258781.7:p.Gln107Ter | |
| ENST00000648329.1:c.319C>T | ENSP00000496916.1:p.Gln107Ter | |
| ENST00000258781.10:c.319C>T | ENSP00000258781.6:p.Gln107Ter | |
| ENST00000381112.7:c.382C>T | ENSP00000370503.3:p.Gln128Ter | |
| ENST00000461377.5:n.672C>T | ||
| ENST00000472223.5:n.386C>T | ||
| ENST00000474617.1:c.301C>T | ENSP00000419474.1:p.Gln101Ter | |
| ENST00000475551.5:c.301C>T | ENSP00000417180.1:p.Gln101Ter | |
| ENST00000476594.1:n.404C>T | ||
| ENST00000478169.5:n.541C>T | ||
| ENST00000478582.5:n.530C>T | ||
| ENST00000480658.5:n.301-3950C>T | ||
| ENST00000482714.5:n.241C>T | ||
| ENST00000488727.5:c.319C>T | ENSP00000417251.1:p.Gln107Ter | |
| ENST00000492883.5:n.331C>T | ||
| ENST00000541586.5:c.145C>T | ENSP00000444725.1:p.Gln49Ter | |
| ENST00000544363.5:c.319C>T | ENSP00000438035.1:p.Gln107Ter | |
| NM_001029835.2:c.382C>T , LRG_664t1:c.382C>T | NP_001025006.1:p.Gln128Ter | |
| NM_001167934.1:c.145C>T | NP_001161406.1:p.Gln49Ter | |
| NM_001167935.1:c.319C>T | NP_001161407.1:p.Gln107Ter | |
| NM_031443.3:c.319C>T , LRG_664t2:c.319C>T | NP_113631.1:p.Gln107Ter | |
| NR_030770.1:n.401C>T | ||
| XM_006715785.2:c.208C>T | XP_006715848.1:p.Gln70Ter | |
| XM_006715786.2:c.382C>T | XP_006715849.1:p.Gln128Ter | |
| XM_011515561.1:c.382C>T | XP_011513863.1:p.Gln128Ter | |
| XM_011515562.1:c.319C>T | XP_011513864.1:p.Gln107Ter | |
| XM_011515563.1:c.208C>T | XP_011513865.1:p.Gln70Ter | |
| XM_011515564.1:c.145C>T | XP_011513866.1:p.Gln49Ter | |
| XR_428088.2:n.395C>T | ||
| NM_001363458.1:c.319C>T | NP_001350387.1:p.Gln107Ter | |
| NM_001363459.1:c.145C>T | NP_001350388.1:p.Gln49Ter | |
| XM_006715785.4:c.208C>T | XP_006715848.1:p.Gln70Ter | |
| XM_006715786.3:c.382C>T | XP_006715849.1:p.Gln128Ter | |
| XM_011515561.2:c.382C>T | XP_011513863.1:p.Gln128Ter | |
| XM_011515563.3:c.208C>T | XP_011513865.1:p.Gln70Ter | |
| XM_017012671.1:c.382C>T | XP_016868160.1:p.Gln128Ter | |
| XM_017012672.2:c.208C>T | XP_016868161.1:p.Gln70Ter | |
| XM_017012673.1:c.145C>T | XP_016868162.1:p.Gln49Ter | |
| XR_428088.3:n.415C>T | ||
| NM_001363458.2:c.319C>T | NP_001350387.1:p.Gln107Ter | |
| NM_001363459.2:c.145C>T | NP_001350388.1:p.Gln49Ter | |
| NM_031443.4:c.319C>T MANE Select | NP_113631.1:p.Gln107Ter | |
| NR_030770.2:n.401C>T | ||
| NM_001167934.2:c.145C>T | NP_001161406.1:p.Gln49Ter | |
| NM_001167935.2:c.319C>T | NP_001161407.1:p.Gln107Ter |