Linked Data
ClinVar Variation Id:
217669
dbSNP Id:
rs201097695
gnomAD v4:
14-58444011-C-T
PubMed:
PMID:26096313
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.58444011C>T , CM000676.2:g.58444011C>T | GRCh38 |
| NC_000014.8:g.58910729C>T , CM000676.1:g.58910729C>T | GRCh37 |
| NC_000014.7:g.57980482C>T | NCBI36 |
| NG_051335.2:g.21627C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555203.6:n.333C>T | ||
| ENST00000619722.5:c.388C>T | ENSP00000481936.1:p.Gln130Ter | |
| ENST00000650845.1:n.1189C>T | ||
| ENST00000650904.1:c.643C>T | ENSP00000498606.1:p.Gln215Ter | |
| ENST00000651937.1:c.598C>T | ENSP00000498785.1:p.Gln200Ter | |
| ENST00000652120.1:n.549C>T | ||
| ENST00000652326.2:c.643C>T MANE Select | ENSP00000498929.1:p.Gln215Ter | |
| ENST00000652732.1:c.*209C>T | ENSP00000498799.1:n.*209C>T | |
| ENST00000674802.1:n.875C>T | ||
| ENST00000261244.9:c.643C>T | ENSP00000261244.5:p.Gln215Ter | |
| ENST00000354386.10:c.802C>T | ENSP00000346359.6:p.Gln268Ter | |
| ENST00000423743.7:c.511C>T | ENSP00000399427.3:p.Gln171Ter | |
| ENST00000538571.6:n.233C>T | ||
| ENST00000554463.5:c.388C>T | ENSP00000451831.1:p.Gln130Ter | |
| ENST00000555203.5:c.*209C>T | ENSP00000452536.1:n.*209C>T | |
| ENST00000555833.5:c.388C>T | ENSP00000450855.1:p.Gln130Ter | |
| ENST00000556134.5:c.511C>T | ENSP00000452351.2:p.Gln171Ter | |
| ENST00000557590.5:n.606C>T | ||
| ENST00000619416.4:c.598C>T | ENSP00000478083.1:p.Gln200Ter | |
| ENST00000619722.4:c.388C>T | ENSP00000481936.1:p.Gln130Ter | |
| NM_001244189.1:c.802C>T | NP_001231118.1:p.Gln268Ter | |
| NM_001244190.1:c.598C>T | NP_001231119.1:p.Gln200Ter | |
| NM_001244191.1:c.388C>T | NP_001231120.1:p.Gln130Ter | |
| NM_001244192.1:c.511C>T | NP_001231121.1:p.Gln171Ter | |
| NM_001244193.1:c.223C>T | NP_001231122.1:p.Gln75Ter | |
| NM_014749.3:c.643C>T | NP_055564.3:p.Gln215Ter | |
| NM_001329943.2:c.643C>T | NP_001316872.1:p.Gln215Ter | |
| NM_001329944.1:c.643C>T | NP_001316873.1:p.Gln215Ter | |
| NM_001329945.1:c.388C>T | NP_001316874.1:p.Gln130Ter | |
| NM_001329946.1:c.643C>T | NP_001316875.1:p.Gln215Ter | |
| NM_001329947.1:c.643C>T | NP_001316876.1:p.Gln215Ter | |
| NM_001364700.1:c.388C>T | NP_001351629.1:p.Gln130Ter | |
| NM_001364701.1:c.388C>T | NP_001351630.1:p.Gln130Ter | |
| NM_014749.4:c.643C>T | NP_055564.3:p.Gln215Ter | |
| XM_024449779.1:c.766C>T | XP_024305547.1:p.Gln256Ter | |
| XM_024449780.1:c.643C>T | XP_024305548.1:p.Gln215Ter | |
| XM_024449781.1:c.766C>T | XP_024305549.1:p.Gln256Ter | |
| XM_024449782.1:c.388C>T | XP_024305550.1:p.Gln130Ter | |
| XM_024449783.1:c.388C>T | XP_024305551.1:p.Gln130Ter | |
| XM_024449784.1:c.388C>T | XP_024305552.1:p.Gln130Ter | |
| XM_024449785.1:c.388C>T | XP_024305553.1:p.Gln130Ter | |
| XM_024449787.1:c.247C>T | XP_024305555.1:p.Gln83Ter | |
| XM_024449788.1:c.223C>T | XP_024305556.1:p.Gln75Ter | |
| XM_024449789.1:c.223C>T | XP_024305557.1:p.Gln75Ter | |
| XM_024449791.1:c.643C>T | XP_024305559.1:p.Gln215Ter | |
| NM_001244189.2:c.802C>T | NP_001231118.1:p.Gln268Ter | |
| NM_001244190.2:c.598C>T | NP_001231119.1:p.Gln200Ter | |
| NM_001244192.2:c.511C>T | NP_001231121.1:p.Gln171Ter | |
| NM_001329943.3:c.643C>T MANE Select | NP_001316872.1:p.Gln215Ter | |
| NM_001329944.2:c.643C>T | NP_001316873.1:p.Gln215Ter | |
| NM_001329945.2:c.388C>T | NP_001316874.1:p.Gln130Ter | |
| NM_001329946.2:c.643C>T | NP_001316875.1:p.Gln215Ter | |
| NM_001329947.2:c.643C>T | NP_001316876.1:p.Gln215Ter | |
| NM_001364701.2:c.388C>T | NP_001351630.1:p.Gln130Ter | |
| NM_014749.5:c.643C>T | NP_055564.3:p.Gln215Ter | |
| NM_001244191.2:c.388C>T | NP_001231120.1:p.Gln130Ter | |
| NM_001244193.2:c.223C>T | NP_001231122.1:p.Gln75Ter |