Linked Data
ClinVar Variation Id:
520994
dbSNP Id:
rs760345680
ExAC:
17:72860036 G / A
gnomAD v2:
17-72860036-G-A
gnomAD v3:
17-74863914-G-A
gnomAD v4:
17-74863914-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74863914G>A , CM000679.2:g.74863914G>A | GRCh38 |
| NC_000017.10:g.72860036G>A , CM000679.1:g.72860036G>A | GRCh37 |
| NC_000017.9:g.70371631G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293195.10:c.1156C>T MANE Select | ENSP00000293195.5:p.Arg386Trp | |
| ENST00000293195.9:c.1156C>T | ENSP00000293195.5:p.Arg386Trp | |
| ENST00000413947.6:c.1249C>T | ENSP00000408595.2:p.Arg417Trp | |
| ENST00000420580.6:c.1036C>T | ENSP00000414172.2:p.Arg346Trp | |
| ENST00000442102.6:c.1285C>T | ENSP00000416515.2:p.Arg429Trp | |
| ENST00000544854.5:c.1000C>T | ENSP00000445432.1:p.Arg334Trp | |
| ENST00000577509.5:c.*1115C>T | ENSP00000462083.1:n.*1115C>T | |
| ENST00000578473.5:n.1844C>T | ||
| ENST00000579482.5:c.*1348C>T | ENSP00000461993.1:n.*1348C>T | |
| ENST00000581530.5:c.1174C>T | ENSP00000462972.1:p.Arg392Trp | |
| ENST00000582944.5:c.1132C>T | ENSP00000462183.1:p.Arg378Trp | |
| ENST00000583881.5:c.*639+234C>T | ENSP00000464670.1:n.*639+234C>T | |
| ENST00000583917.5:c.1072C>T | ENSP00000463940.1:p.Arg358Trp | |
| NM_001258012.3:c.1285C>T | NP_001244941.2:p.Arg429Trp | |
| NM_001258013.3:c.1249C>T | NP_001244942.2:p.Arg417Trp | |
| NM_001258014.3:c.1132C>T | NP_001244943.2:p.Arg378Trp | |
| NM_001258015.2:c.1036C>T | NP_001244944.1:p.Arg346Trp | |
| NM_001258016.3:c.1000C>T | NP_001244945.2:p.Arg334Trp | |
| NM_004110.5:c.1174C>T | NP_004101.3:p.Arg392Trp | |
| NM_024417.4:c.1156C>T | NP_077728.3:p.Arg386Trp | |
| NR_047576.2:n.1343C>T | ||
| XM_006721772.1:c.1159C>T | XP_006721835.1:p.Arg387Trp | |
| XM_011524527.1:c.1177C>T | XP_011522829.1:p.Arg393Trp | |
| XM_011524528.1:c.1168C>T | XP_011522830.1:p.Arg390Trp | |
| XM_011524529.1:c.1165C>T | XP_011522831.1:p.Arg389Trp | |
| XM_011524530.1:c.1039C>T | XP_011522832.1:p.Arg347Trp | |
| XM_011524531.1:c.1021C>T | XP_011522833.1:p.Arg341Trp | |
| XM_011524532.1:c.1018C>T | XP_011522834.1:p.Arg340Trp | |
| XM_011524533.1:c.1003C>T | XP_011522835.1:p.Arg335Trp | |
| XM_006721772.2:c.1159C>T | XP_006721835.1:p.Arg387Trp | |
| XM_011524527.2:c.1177C>T | XP_011522829.1:p.Arg393Trp | |
| XM_011524531.2:c.1021C>T | XP_011522833.1:p.Arg341Trp | |
| XM_011524532.2:c.1018C>T | XP_011522834.1:p.Arg340Trp | |
| XM_011524533.2:c.1003C>T | XP_011522835.1:p.Arg335Trp | |
| XM_024450648.1:c.874C>T | XP_024306416.1:p.Arg292Trp | |
| XM_024450649.1:c.427C>T | XP_024306417.1:p.Arg143Trp | |
| XM_024450650.1:c.427C>T | XP_024306418.1:p.Arg143Trp | |
| XR_002957983.1:n.1363C>T | ||
| NM_024417.5:c.1156C>T MANE Select | NP_077728.3:p.Arg386Trp | |
| NM_001258012.4:c.1285C>T | NP_001244941.2:p.Arg429Trp | |
| NM_001258013.4:c.1249C>T | NP_001244942.2:p.Arg417Trp | |
| NM_001258014.4:c.1132C>T | NP_001244943.2:p.Arg378Trp | |
| NM_001258015.3:c.1036C>T | NP_001244944.1:p.Arg346Trp | |
| NM_004110.6:c.1174C>T | NP_004101.3:p.Arg392Trp | |
| NR_047576.3:n.1306C>T |