Linked Data
ClinVar Variation Id:
418183
dbSNP Id:
rs369912835
ExAC:
4:159606325 C / T
gnomAD v2:
4-159606325-C-T
gnomAD v3:
4-158685173-C-T
gnomAD v4:
4-158685173-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158685173C>T , CM000666.2:g.158685173C>T | GRCh38 |
| NC_000004.11:g.159606325C>T , CM000666.1:g.159606325C>T | GRCh37 |
| NC_000004.10:g.159825775C>T | NCBI36 |
| NG_007078.2:g.17832C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507475.6:n.333C>T | ||
| ENST00000681978.1:n.809C>T | ||
| ENST00000682178.1:n.1592C>T | ||
| ENST00000682345.1:c.*306+500C>T | ENSP00000508122.1:n.*306+500C>T | |
| ENST00000682452.1:n.891C>T | ||
| ENST00000682456.1:c.560C>T | ENSP00000508240.1:p.Ala187Val | |
| ENST00000682601.1:n.751C>T | ||
| ENST00000682734.1:c.-568+500C>T | ENSP00000507860.1:n.-568+500C>T | |
| ENST00000682820.1:n.597C>T | ||
| ENST00000682910.1:n.867C>T | ||
| ENST00000683004.1:c.*397C>T | ENSP00000506936.1:n.*397C>T | |
| ENST00000683079.1:c.487+500C>T | ENSP00000507296.1:n.487+500C>T | |
| ENST00000683081.1:c.*397C>T | ENSP00000507722.1:n.*397C>T | |
| ENST00000683123.1:n.609C>T | ||
| ENST00000683305.1:c.377C>T | ENSP00000508043.1:p.Ala126Val | |
| ENST00000683448.1:c.65C>T | ENSP00000506931.1:p.Ala22Val | |
| ENST00000683478.1:c.487+500C>T | ENSP00000507793.1:n.487+500C>T | |
| ENST00000683483.1:c.560C>T | ENSP00000507719.1:p.Ala187Val | |
| ENST00000683750.1:n.683C>T | ||
| ENST00000683751.1:c.65C>T | ENSP00000506944.1:p.Ala22Val | |
| ENST00000684036.1:c.377C>T | ENSP00000507276.1:p.Ala126Val | |
| ENST00000684129.1:c.-613+500C>T | ENSP00000507174.1:n.-613+500C>T | |
| ENST00000684209.1:n.800C>T | ||
| ENST00000684296.1:c.560C>T | ENSP00000507740.1:p.Ala187Val | |
| ENST00000684505.1:c.509C>T | ENSP00000508237.1:p.Ala170Val | |
| ENST00000684552.1:c.560C>T | ENSP00000506899.1:p.Ala187Val | |
| ENST00000684611.1:n.2288C>T | ||
| ENST00000684622.1:c.560C>T | ENSP00000507546.1:p.Ala187Val | |
| ENST00000684627.1:c.377C>T | ENSP00000507471.1:p.Ala126Val | |
| ENST00000684641.1:c.560C>T | ENSP00000507642.1:p.Ala187Val | |
| ENST00000684675.1:c.560C>T | ENSP00000506934.1:p.Ala187Val | |
| ENST00000684749.1:n.629C>T | ||
| ENST00000511912.6:c.560C>T MANE Select | ENSP00000426638.1:p.Ala187Val | |
| ENST00000307738.5:c.419C>T | ENSP00000303552.5:p.Ala140Val | |
| ENST00000506422.1:n.86+12683C>T | ||
| ENST00000507475.5:c.65C>T | ENSP00000422735.1:p.Ala22Val | |
| ENST00000511912.5:c.560C>T | ENSP00000426638.1:p.Ala187Val | |
| NM_001281737.1:c.419C>T | NP_001268666.1:p.Ala140Val | |
| NM_001281738.1:c.377C>T | NP_001268667.1:p.Ala126Val | |
| NM_004453.3:c.560C>T | NP_004444.2:p.Ala187Val | |
| XM_024453935.1:c.377C>T | XP_024309703.1:p.Ala126Val | |
| NM_004453.4:c.560C>T MANE Select | NP_004444.2:p.Ala187Val | |
| NM_001281737.2:c.419C>T | NP_001268666.1:p.Ala140Val |