Linked Data
ClinVar Variation Id:
204832
dbSNP Id:
rs754449549
ExAC:
5:125894936 C / T
gnomAD v2:
5-125894936-C-T
gnomAD v3:
5-126559244-C-T
gnomAD v4:
5-126559244-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126559244C>T , CM000667.2:g.126559244C>T | GRCh38 |
| NC_000005.9:g.125894936C>T , CM000667.1:g.125894936C>T | GRCh37 |
| NC_000005.8:g.125922835C>T | NCBI36 |
| NG_008600.2:g.41147G>A | |
| NG_008600.3:g.41147G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1004G>A MANE Select | ENSP00000387123.3:p.Arg335Gln | |
| ENST00000458249.6:c.*913G>A | ENSP00000403929.1:n.*913G>A | |
| ENST00000497231.7:n.1431G>A | ||
| ENST00000503281.6:c.593G>A | ||
| ENST00000509459.6:c.513G>A | ||
| ENST00000635851.1:c.1002G>A | ||
| ENST00000636062.1:n.899G>A | ||
| ENST00000636225.1:c.*948G>A | ENSP00000490797.1:n.*948G>A | |
| ENST00000636286.1:n.722G>A | ||
| ENST00000636482.1:n.491G>A | ||
| ENST00000636743.1:c.884G>A | ENSP00000489725.1:p.Arg295Gln | |
| ENST00000636808.1:c.*813G>A | ENSP00000490833.1:n.*813G>A | |
| ENST00000636872.1:c.1164G>A | ENSP00000490919.1:n.1164G>A | |
| ENST00000636879.1:c.1049G>A | ENSP00000490811.1:p.Arg350Gln | |
| ENST00000636886.1:c.803G>A | ENSP00000490371.1:p.Arg268Gln | |
| ENST00000637206.1:c.913+1839G>A | ENSP00000489895.1:n.913+1839G>A | |
| ENST00000637272.1:c.995G>A | ENSP00000489686.1:p.Arg332Gln | |
| ENST00000637292.1:c.577G>A | ||
| ENST00000637782.1:c.1004G>A | ENSP00000490024.1:p.Arg335Gln | |
| ENST00000637964.1:c.950G>A | ENSP00000490291.1:p.Arg317Gln | |
| ENST00000638008.1:c.*848G>A | ENSP00000490400.1:n.*848G>A | |
| ENST00000409134.7:c.1004G>A | ENSP00000387123.3:p.Arg335Gln | |
| ENST00000447989.6:c.1085G>A | ENSP00000414132.2:p.Arg362Gln | |
| ENST00000497231.6:n.1214G>A | ||
| ENST00000503281.5:c.593G>A | ||
| ENST00000509459.5:c.513G>A | ||
| ENST00000553117.5:c.1004G>A | ENSP00000448593.1:p.Arg335Gln | |
| NM_001182.4:c.1004G>A | NP_001173.2:p.Arg335Gln | |
| NM_001201377.1:c.920G>A | NP_001188306.1:p.Arg307Gln | |
| NM_001202404.1:c.1085G>A | NP_001189333.1:p.Arg362Gln | |
| XM_011543417.1:c.599G>A | XP_011541719.1:p.Arg200Gln | |
| XM_011543417.2:c.599G>A | XP_011541719.1:p.Arg200Gln | |
| NM_001182.5:c.1004G>A MANE Select | NP_001173.2:p.Arg335Gln | |
| NM_001201377.2:c.920G>A | NP_001188306.1:p.Arg307Gln | |
| NM_001202404.2:c.1004G>A | NP_001189333.2:p.Arg335Gln |