Linked Data
ClinVar Variation Id:
1415050
ClinVar RCV Id:
RCV001932891
dbSNP Id:
rs770155717
ExAC:
12:56087840 G / A
gnomAD v2:
12-56087840-G-A
gnomAD v3:
12-55694056-G-A
gnomAD v4:
12-55694056-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55694056G>A , CM000674.2:g.55694056G>A | GRCh38 |
| NC_000012.11:g.56087840G>A , CM000674.1:g.56087840G>A | GRCh37 |
| NC_000012.10:g.54374107G>A | NCBI36 |
| NG_012343.1:g.23250C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553893.6:c.*2124C>T | ENSP00000452467.1:n.*2124C>T | |
| ENST00000554327.6:c.1171C>T | ||
| ENST00000557058.2:n.1915C>T | ||
| ENST00000557257.2:c.2026C>T | ENSP00000450578.2:p.Arg676Trp | |
| ENST00000557555.3:c.2512C>T | ENSP00000451039.3:p.Arg838Trp | |
| ENST00000686981.1:c.*2211C>T | ENSP00000510795.1:n.*2211C>T | |
| ENST00000687390.1:n.606C>T | ||
| ENST00000689678.1:n.656C>T | ||
| ENST00000691052.1:c.*984C>T | ENSP00000508886.1:n.*984C>T | |
| ENST00000691846.1:c.1313C>T | ||
| ENST00000691973.1:c.2512C>T | ENSP00000509141.1:p.Arg838Trp | |
| ENST00000257879.11:c.2500C>T MANE Select | ENSP00000257879.7:p.Arg834Trp | |
| ENST00000553804.6:c.2512C>T | ENSP00000452120.1:p.Arg838Trp | |
| ENST00000257879.10:c.2500C>T | ENSP00000257879.6:p.Arg834Trp | |
| ENST00000347027.10:c.2482C>T | ENSP00000343009.6:p.Arg828Trp | |
| ENST00000452168.6:c.2221C>T | ENSP00000393844.2:p.Arg741Trp | |
| ENST00000553804.5:c.2512C>T | ENSP00000452120.1:p.Arg838Trp | |
| ENST00000554327.5:c.565C>T | ||
| ENST00000555728.5:c.2632C>T | ENSP00000452387.1:p.Arg878Trp | |
| NM_001144996.1:c.2512C>T | NP_001138468.1:p.Arg838Trp | |
| NM_001144997.1:c.2221C>T | NP_001138469.1:p.Arg741Trp | |
| NM_002206.2:c.2500C>T | NP_002197.2:p.Arg834Trp | |
| XM_005268839.1:c.2632C>T | XP_005268896.1:p.Arg878Trp | |
| XM_005268840.1:c.2614C>T | XP_005268897.1:p.Arg872Trp | |
| XM_005268841.1:c.2632C>T | XP_005268898.1:p.Arg878Trp | |
| XM_005268842.1:c.2482C>T | XP_005268899.1:p.Arg828Trp | |
| XM_005268844.1:c.2293C>T | XP_005268901.1:p.Arg765Trp | |
| XM_005268845.1:c.2161C>T | XP_005268902.1:p.Arg721Trp | |
| XM_005268846.1:c.2161C>T | XP_005268903.1:p.Arg721Trp | |
| XM_005268847.1:c.2158C>T | XP_005268904.1:p.Arg720Trp | |
| XM_005268848.1:c.2158C>T | XP_005268905.1:p.Arg720Trp | |
| XM_005268849.1:c.2158C>T | XP_005268906.1:p.Arg720Trp | |
| XM_005268850.1:c.2026C>T | XP_005268907.1:p.Arg676Trp | |
| XM_011538286.1:c.2293C>T | XP_011536588.1:p.Arg765Trp | |
| XM_005268839.2:c.2632C>T | XP_005268896.1:p.Arg878Trp | |
| XM_005268840.2:c.2614C>T | XP_005268897.1:p.Arg872Trp | |
| XM_005268841.2:c.2632C>T | XP_005268898.1:p.Arg878Trp | |
| XM_005268842.2:c.2482C>T | XP_005268899.1:p.Arg828Trp | |
| XM_017019265.1:c.2242C>T | XP_016874754.1:p.Arg748Trp | |
| NM_001144996.2:c.2512C>T | NP_001138468.1:p.Arg838Trp | |
| NM_001367993.1:c.2173C>T | NP_001354922.1:p.Arg725Trp | |
| NM_001367994.1:c.1156C>T | NP_001354923.1:p.Arg386Trp | |
| NM_001374465.1:c.2482C>T | NP_001361394.1:p.Arg828Trp | |
| NM_002206.3:c.2500C>T MANE Select | NP_002197.2:p.Arg834Trp |