Linked Data
dbSNP Id:
rs6817306
gnomAD v2:
4-17868058-T-C
gnomAD v3:
4-17866435-T-C
gnomAD v4:
4-17866435-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.17866435T>C , CM000666.2:g.17866435T>C | GRCh38 |
| NC_000004.11:g.17868058T>C , CM000666.1:g.17868058T>C | GRCh37 |
| NC_000004.10:g.17477156T>C | NCBI36 |
| NG_015822.1:g.160426A>G | |
| NG_015822.2:g.160426A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000635767.2:c.5602+6953A>G MANE Select | ENSP00000490600.1:n.5602+6953A>G | |
| ENST00000635767.1:c.5602+6953A>G | ENSP00000490600.1:n.5602+6953A>G | |
| ENST00000637787.1:c.5409+6953A>G | ||
| ENST00000675131.1:c.*604+19633A>G | ENSP00000501990.1:n.*604+19633A>G | |
| ENST00000675143.1:c.803+564A>G | ENSP00000502692.1:n.803+564A>G | |
| ENST00000675605.1:c.1279+564A>G | ||
| ENST00000675927.1:c.801+564A>G | ||
| ENST00000676180.1:c.1156+564A>G | ENSP00000501732.1:n.1156+564A>G | |
| ENST00000326877.8:c.776+19633A>G | ENSP00000317566.3:n.776+19633A>G | |
| ENST00000510121.5:n.224+19633A>G | ||
| ENST00000510451.5:c.*363-20534A>G | ENSP00000423489.1:n.*363-20534A>G | |
| NM_153686.7:c.776+19633A>G | NP_710153.2:n.776+19633A>G | |
| XM_011513821.1:c.*1+564A>G | XP_011512123.1:n.*1+564A>G | |
| XM_011513822.1:c.5602+6953A>G | XP_011512124.1:n.5602+6953A>G | |
| XM_011513823.1:c.*1+564A>G | XP_011512125.1:n.*1+564A>G | |
| XM_011513824.1:c.803+564A>G | XP_011512126.1:n.803+564A>G | |
| XM_011513826.1:c.683-20534A>G | XP_011512128.1:n.683-20534A>G | |
| NM_001365660.1:c.803+564A>G | NP_001352589.1:n.803+564A>G | |
| NM_001365663.1:c.683-20534A>G | NP_001352592.1:n.683-20534A>G | |
| NM_001365665.1:c.431-20534A>G | NP_001352594.1:n.431-20534A>G | |
| NM_153686.8:c.776+19633A>G | NP_710153.2:n.776+19633A>G | |
| NR_136669.1:n.727-20534A>G | ||
| NR_158563.1:n.803-20534A>G | ||
| NR_158564.1:n.1874-20534A>G | ||
| NR_158565.1:n.1967+19633A>G | ||
| NR_158566.1:n.796-20534A>G | ||
| NR_158568.1:n.820+19633A>G | ||
| XM_011513821.3:c.*1+564A>G | XP_011512123.1:n.*1+564A>G | |
| XM_011513822.3:c.5602+6953A>G | XP_011512124.1:n.5602+6953A>G | |
| XM_011513823.3:c.*1+564A>G | XP_011512125.1:n.*1+564A>G | |
| XM_017007961.2:c.*1+564A>G | XP_016863450.1:n.*1+564A>G | |
| XM_017007962.2:c.*1+564A>G | XP_016863451.1:n.*1+564A>G | |
| XM_017007963.2:c.*1+564A>G | XP_016863452.1:n.*1+564A>G | |
| XM_017007965.1:c.524+19633A>G | XP_016863454.1:n.524+19633A>G | |
| NR_136669.2:n.607-20534A>G | ||
| NR_136669.3:n.607-20534A>G | ||
| NM_001394446.1:c.5602+6953A>G MANE Select | NP_001381375.1:n.5602+6953A>G |