Linked Data
ClinVar Variation Id:
447238
dbSNP Id:
rs148810193
ExAC:
2:74600066 G / A
gnomAD v2:
2-74600066-G-A
gnomAD v3:
2-74372939-G-A
gnomAD v4:
2-74372939-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74372939G>A , CM000664.2:g.74372939G>A | GRCh38 |
| NC_000002.11:g.74600066G>A , CM000664.1:g.74600066G>A | GRCh37 |
| NC_000002.10:g.74453574G>A | NCBI36 |
| NG_008735.2:g.24149C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361874.8:c.442C>T | ENSP00000354791.4:p.Arg148Trp | |
| ENST00000628224.3:c.442C>T MANE Select | ENSP00000487279.2:p.Arg148Trp | |
| ENST00000680606.1:c.391C>T | ENSP00000505612.1:p.Arg131Trp | |
| ENST00000361874.7:c.442C>T | ENSP00000354791.3:p.Arg148Trp | |
| ENST00000394003.7:c.421C>T | ENSP00000377571.3:p.Arg141Trp | |
| ENST00000409240.5:c.343-1211C>T | ENSP00000386406.1:n.343-1211C>T | |
| ENST00000409438.5:c.40C>T | ENSP00000387270.1:p.Arg14Trp | |
| ENST00000409567.7:c.394-1211C>T | ENSP00000386843.3:n.394-1211C>T | |
| ENST00000409868.5:c.391C>T | ENSP00000387327.1:p.Arg131Trp | |
| ENST00000434055.5:c.343-1211C>T | ENSP00000416711.1:n.343-1211C>T | |
| ENST00000458655.5:c.463C>T | ENSP00000414315.1:p.Arg155Trp | |
| ENST00000462813.1:n.277C>T | ||
| ENST00000463583.5:n.195C>T | ||
| ENST00000477966.1:n.383C>T | ||
| ENST00000628224.2:c.391C>T | ENSP00000487279.1:p.Arg131Trp | |
| ENST00000633691.1:c.40C>T | ENSP00000487724.1:p.Arg14Trp | |
| NM_001135040.2:c.394-1211C>T | NP_001128512.1:n.394-1211C>T | |
| NM_001135041.2:c.40C>T | NP_001128513.1:p.Arg14Trp | |
| NM_001190836.1:c.343-1211C>T | NP_001177765.1:n.343-1211C>T | |
| NM_001190837.1:c.421C>T | NP_001177766.1:p.Arg141Trp | |
| NM_004082.4:c.442C>T | NP_004073.2:p.Arg148Trp | |
| NM_023019.3:c.40C>T | NP_075408.1:p.Arg14Trp | |
| NR_033935.1:n.655-1211C>T | ||
| NM_001135040.3:c.394-1211C>T | NP_001128512.1:n.394-1211C>T | |
| NM_001135041.3:c.40C>T | NP_001128513.1:p.Arg14Trp | |
| NM_001190836.2:c.343-1211C>T | NP_001177765.1:n.343-1211C>T | |
| NM_001190837.2:c.421C>T | NP_001177766.1:p.Arg141Trp | |
| NM_001378991.1:c.391C>T | NP_001365920.1:p.Arg131Trp | |
| NM_001378992.1:c.373C>T | NP_001365921.1:p.Arg125Trp | |
| NM_004082.5:c.442C>T MANE Select | NP_004073.2:p.Arg148Trp | |
| NM_023019.4:c.40C>T | NP_075408.1:p.Arg14Trp | |
| NR_033935.2:n.434-1211C>T |