Linked Data
ClinVar Variation Id:
95071
dbSNP Id:
rs398124151
ExAC:
4:159624692 G / T
gnomAD v2:
4-159624692-G-T
gnomAD v3:
4-158703540-G-T
gnomAD v4:
4-158703540-G-T
COSMIC:
COSM4138105
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158703540G>T , CM000666.2:g.158703540G>T | GRCh38 |
| NC_000004.11:g.159624692G>T , CM000666.1:g.159624692G>T | GRCh37 |
| NC_000004.10:g.159844142G>T | NCBI36 |
| NG_007078.2:g.36199G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681978.1:n.2770G>T | ||
| ENST00000682178.1:n.2266G>T | ||
| ENST00000682345.1:c.*934G>T | ENSP00000508122.1:n.*934G>T | |
| ENST00000682452.1:n.1565G>T | ||
| ENST00000682456.1:c.1093G>T | ENSP00000508240.1:p.Glu365Ter | |
| ENST00000682566.1:n.2017G>T | ||
| ENST00000682613.1:n.1546G>T | ||
| ENST00000682734.1:c.61G>T | ENSP00000507860.1:p.Glu21Ter | |
| ENST00000682820.1:n.1271G>T | ||
| ENST00000683004.1:c.*927G>T | ENSP00000506936.1:n.*927G>T | |
| ENST00000683079.1:c.*659G>T | ENSP00000507296.1:n.*659G>T | |
| ENST00000683081.1:c.*1071G>T | ENSP00000507722.1:n.*1071G>T | |
| ENST00000683181.1:n.513G>T | ||
| ENST00000683209.1:n.3560G>T | ||
| ENST00000683305.1:c.1051G>T | ENSP00000508043.1:p.Glu351Ter | |
| ENST00000683448.1:c.*154G>T | ENSP00000506931.1:n.*154G>T | |
| ENST00000683478.1:c.*585G>T | ENSP00000507793.1:n.*585G>T | |
| ENST00000683483.1:c.1090G>T | ENSP00000507719.1:p.Glu364Ter | |
| ENST00000683622.1:n.948G>T | ||
| ENST00000683751.1:c.739G>T | ENSP00000506944.1:p.Glu247Ter | |
| ENST00000684036.1:c.1051G>T | ENSP00000507276.1:p.Glu351Ter | |
| ENST00000684129.1:c.61G>T | ENSP00000507174.1:p.Glu21Ter | |
| ENST00000684209.1:n.1609G>T | ||
| ENST00000684296.1:c.*154G>T | ENSP00000507740.1:n.*154G>T | |
| ENST00000684505.1:c.1183G>T | ENSP00000508237.1:p.Glu395Ter | |
| ENST00000684552.1:c.*154G>T | ENSP00000506899.1:n.*154G>T | |
| ENST00000684611.1:n.2962G>T | ||
| ENST00000684622.1:c.1234G>T | ENSP00000507546.1:p.Glu412Ter | |
| ENST00000684627.1:c.1051G>T | ENSP00000507471.1:p.Glu351Ter | |
| ENST00000684641.1:c.949G>T | ENSP00000507642.1:p.Glu317Ter | |
| ENST00000684675.1:c.*81G>T | ENSP00000506934.1:n.*81G>T | |
| ENST00000684749.1:n.1303G>T | ||
| ENST00000511912.6:c.1234G>T MANE Select | ENSP00000426638.1:p.Glu412Ter | |
| ENST00000307738.5:c.1093G>T | ENSP00000303552.5:p.Glu365Ter | |
| ENST00000506422.1:n.204G>T | ||
| ENST00000511912.5:c.1234G>T | ENSP00000426638.1:p.Glu412Ter | |
| NM_001281737.1:c.1093G>T | NP_001268666.1:p.Glu365Ter | |
| NM_001281738.1:c.1051G>T | NP_001268667.1:p.Glu351Ter | |
| NM_004453.3:c.1234G>T | NP_004444.2:p.Glu412Ter | |
| XM_024453935.1:c.1051G>T | XP_024309703.1:p.Glu351Ter | |
| NM_004453.4:c.1234G>T MANE Select | NP_004444.2:p.Glu412Ter | |
| NM_001281737.2:c.1093G>T | NP_001268666.1:p.Glu365Ter |