Linked Data
ClinVar Variation Id:
7827
dbSNP Id:
rs121909227
gnomAD v4:
10-87957858-C-T
COSMIC:
COSM5150
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957858C>T , CM000672.2:g.87957858C>T | GRCh38 |
| NC_000010.10:g.89717615C>T , CM000672.1:g.89717615C>T | GRCh37 |
| NC_000010.9:g.89707595C>T | NCBI36 |
| NG_007466.2:g.99420C>T , LRG_311:g.99420C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.640C>T | ENSP00000514759.2:p.Gln214Ter | |
| ENST00000710265.1:c.640C>T | ENSP00000518161.1:p.Gln214Ter | |
| ENST00000472832.3:c.640C>T | ENSP00000483066.2:p.Gln214Ter | |
| ENST00000688158.2:n.1375C>T | ||
| ENST00000688922.2:c.*470C>T | ENSP00000508742.2:n.*470C>T | |
| ENST00000700021.1:c.595C>T | ENSP00000514757.1:p.Gln199Ter | |
| ENST00000700022.1:c.498C>T | ENSP00000514758.1:p.Leu166= | |
| ENST00000700023.1:n.1798C>T | ||
| ENST00000700024.1:n.2032C>T | ||
| ENST00000700025.1:n.1409C>T | ||
| ENST00000700026.1:n.277C>T | ||
| ENST00000700029.1:c.474C>T | ||
| ENST00000706954.1:c.640C>T | ENSP00000516674.1:p.Gln214Ter | |
| ENST00000706955.1:c.*675C>T | ENSP00000516675.1:n.*675C>T | |
| ENST00000686459.1:c.*226C>T | ENSP00000508909.1:n.*226C>T | |
| ENST00000688158.1:c.*751C>T | ENSP00000509254.1:n.*751C>T | |
| ENST00000688308.1:c.640C>T | ENSP00000508752.1:p.Gln214Ter | |
| ENST00000688922.1:c.561C>T | ||
| ENST00000693560.1:c.1159C>T | ENSP00000509861.1:p.Gln387Ter | |
| ENST00000371953.8:c.640C>T MANE Select | ENSP00000361021.3:p.Gln214Ter | |
| ENST00000371953.7:c.640C>T | ENSP00000361021.3:p.Gln214Ter | |
| ENST00000472832.2:c.67C>T | ENSP00000483066.1:p.Gln23Ter | |
| NM_000314.5:c.640C>T | NP_000305.3:p.Gln214Ter | |
| NM_000314.6:c.640C>T | NP_000305.3:p.Gln214Ter | |
| NM_001304717.2:c.1159C>T | NP_001291646.2:p.Gln387Ter | |
| NM_001304718.1:c.49C>T | NP_001291647.1:p.Gln17Ter | |
| XM_006717926.2:c.595C>T | XP_006717989.1:p.Gln199Ter | |
| XM_011539981.1:c.640C>T | XP_011538283.1:p.Gln214Ter | |
| XM_011539982.1:c.544C>T | XP_011538284.1:p.Gln182Ter | |
| XR_945791.1:n.1210C>T | ||
| NM_000314.7:c.640C>T | NP_000305.3:p.Gln214Ter | |
| NM_001304717.5:c.1159C>T | NP_001291646.4:p.Gln387Ter | |
| NM_001304718.2:c.49C>T | NP_001291647.1:p.Gln17Ter | |
| NM_000314.8:c.640C>T MANE Select | NP_000305.3:p.Gln214Ter |