Linked Data
ClinVar Variation Id:
203724
dbSNP Id:
rs796051960
gnomAD v3:
4-158708482-G-A
gnomAD v4:
4-158708482-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158708482G>A , CM000666.2:g.158708482G>A | GRCh38 |
| NC_000004.11:g.159629634G>A , CM000666.1:g.159629634G>A | GRCh37 |
| NC_000004.10:g.159849084G>A | NCBI36 |
| NG_007078.2:g.41141G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681978.1:n.3345G>A | ||
| ENST00000682178.1:n.2841G>A | ||
| ENST00000682345.1:c.*1509G>A | ENSP00000508122.1:n.*1509G>A | |
| ENST00000682452.1:n.2140G>A | ||
| ENST00000682456.1:c.1668G>A | ENSP00000508240.1:p.Trp556Ter | |
| ENST00000682566.1:n.2592G>A | ||
| ENST00000682613.1:n.2121G>A | ||
| ENST00000682734.1:c.636G>A | ENSP00000507860.1:p.Trp212Ter | |
| ENST00000682820.1:n.1846G>A | ||
| ENST00000683004.1:c.*1502G>A | ENSP00000506936.1:n.*1502G>A | |
| ENST00000683079.1:c.*1234G>A | ENSP00000507296.1:n.*1234G>A | |
| ENST00000683081.1:c.*1646G>A | ENSP00000507722.1:n.*1646G>A | |
| ENST00000683181.1:n.1088G>A | ||
| ENST00000683209.1:n.4135G>A | ||
| ENST00000683305.1:c.1626G>A | ENSP00000508043.1:p.Trp542Ter | |
| ENST00000683448.1:c.*729G>A | ENSP00000506931.1:n.*729G>A | |
| ENST00000683478.1:c.*1160G>A | ENSP00000507793.1:n.*1160G>A | |
| ENST00000683483.1:c.1665G>A | ENSP00000507719.1:p.Trp555Ter | |
| ENST00000683622.1:n.3036G>A | ||
| ENST00000683751.1:c.1314G>A | ENSP00000506944.1:p.Trp438Ter | |
| ENST00000684036.1:c.1626G>A | ENSP00000507276.1:p.Trp542Ter | |
| ENST00000684129.1:c.636G>A | ENSP00000507174.1:p.Trp212Ter | |
| ENST00000684209.1:n.2184G>A | ||
| ENST00000684296.1:c.*729G>A | ENSP00000507740.1:n.*729G>A | |
| ENST00000684505.1:c.1758G>A | ENSP00000508237.1:p.Trp586Ter | |
| ENST00000684552.1:c.*3228G>A | ENSP00000506899.1:n.*3228G>A | |
| ENST00000684611.1:n.3537G>A | ||
| ENST00000684622.1:c.*169G>A | ENSP00000507546.1:n.*169G>A | |
| ENST00000684627.1:c.1626G>A | ENSP00000507471.1:p.Trp542Ter | |
| ENST00000684641.1:c.1524G>A | ENSP00000507642.1:p.Trp508Ter | |
| ENST00000684675.1:c.*656G>A | ENSP00000506934.1:n.*656G>A | |
| ENST00000684749.1:n.1878G>A | ||
| ENST00000511912.6:c.1809G>A MANE Select | ENSP00000426638.1:p.Trp603Ter | |
| ENST00000307738.5:c.1668G>A | ENSP00000303552.5:p.Trp556Ter | |
| ENST00000506422.1:n.779G>A | ||
| ENST00000511912.5:c.1809G>A | ENSP00000426638.1:p.Trp603Ter | |
| NM_001281737.1:c.1668G>A | NP_001268666.1:p.Trp556Ter | |
| NM_001281738.1:c.1626G>A | NP_001268667.1:p.Trp542Ter | |
| NM_004453.3:c.1809G>A | NP_004444.2:p.Trp603Ter | |
| XM_024453935.1:c.1626G>A | XP_024309703.1:p.Trp542Ter | |
| NM_004453.4:c.1809G>A MANE Select | NP_004444.2:p.Trp603Ter | |
| NM_001281737.2:c.1668G>A | NP_001268666.1:p.Trp556Ter |