Linked Data
dbSNP Id:
rs775388343
ExAC:
5:125928418 T / G
gnomAD v2:
5-125928418-T-G
gnomAD v4:
5-126592726-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126592726T>G , CM000667.2:g.126592726T>G | GRCh38 |
| NC_000005.9:g.125928418T>G , CM000667.1:g.125928418T>G | GRCh37 |
| NC_000005.8:g.125956317T>G | NCBI36 |
| NG_008600.2:g.7665A>C | |
| NG_008600.3:g.7665A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.250A>C MANE Select | ENSP00000387123.3:p.Ser84Arg | |
| ENST00000412186.2:c.250A>C | ENSP00000414536.2:p.Ser84Arg | |
| ENST00000413020.6:c.250A>C | ENSP00000487936.1:p.Ser84Arg | |
| ENST00000458249.6:c.*159A>C | ENSP00000403929.1:n.*159A>C | |
| ENST00000479989.6:n.433A>C | ||
| ENST00000503281.6:c.106+2281A>C | ||
| ENST00000509270.2:c.246+625A>C | ENSP00000449318.2:n.246+625A>C | |
| ENST00000509459.6:c.65+2281A>C | ||
| ENST00000511266.6:n.972A>C | ||
| ENST00000635851.1:c.248A>C | ||
| ENST00000635858.1:n.89A>C | ||
| ENST00000635933.1:n.279A>C | ||
| ENST00000636062.1:n.145A>C | ||
| ENST00000636190.1:n.129A>C | ||
| ENST00000636225.1:c.*59A>C | ENSP00000490797.1:n.*59A>C | |
| ENST00000636743.1:c.192+2281A>C | ENSP00000489725.1:n.192+2281A>C | |
| ENST00000636808.1:c.*59A>C | ENSP00000490833.1:n.*59A>C | |
| ENST00000636872.1:c.410A>C | ENSP00000490919.1:n.410A>C | |
| ENST00000636879.1:c.250A>C | ENSP00000490811.1:p.Ser84Arg | |
| ENST00000636886.1:c.192+2281A>C | ENSP00000490371.1:n.192+2281A>C | |
| ENST00000637206.1:c.250A>C | ENSP00000489895.1:p.Ser84Arg | |
| ENST00000637272.1:c.250A>C | ENSP00000489686.1:p.Ser84Arg | |
| ENST00000637782.1:c.250A>C | ENSP00000490024.1:p.Ser84Arg | |
| ENST00000637964.1:c.196A>C | ENSP00000490291.1:p.Ser66Arg | |
| ENST00000638008.1:c.*59A>C | ENSP00000490400.1:n.*59A>C | |
| ENST00000409134.7:c.250A>C | ENSP00000387123.3:p.Ser84Arg | |
| ENST00000412186.1:c.*59A>C | ENSP00000414536.1:n.*59A>C | |
| ENST00000413020.5:c.250A>C | ENSP00000487936.1:p.Ser84Arg | |
| ENST00000447989.6:c.331A>C | ENSP00000414132.2:p.Ser111Arg | |
| ENST00000458249.5:c.410A>C | ENSP00000403929.1:n.410A>C | |
| ENST00000479989.5:n.433A>C | ||
| ENST00000503281.5:c.106+2281A>C | ||
| ENST00000509270.1:c.192+2281A>C | ENSP00000449318.1:n.192+2281A>C | |
| ENST00000509459.5:c.65+2281A>C | ||
| ENST00000510111.6:c.244A>C | ENSP00000447388.1:p.Ser82Arg | |
| ENST00000511266.5:n.205A>C | ||
| ENST00000553117.5:c.250A>C | ENSP00000448593.1:p.Ser84Arg | |
| NM_001182.4:c.250A>C | NP_001173.2:p.Ser84Arg | |
| NM_001201377.1:c.166A>C | NP_001188306.1:p.Ser56Arg | |
| NM_001202404.1:c.331A>C | NP_001189333.1:p.Ser111Arg | |
| XM_011543417.1:c.-156A>C | XP_011541719.1:n.-156A>C | |
| XM_011543417.2:c.-156A>C | XP_011541719.1:n.-156A>C | |
| NM_001182.5:c.250A>C MANE Select | NP_001173.2:p.Ser84Arg | |
| NM_001201377.2:c.166A>C | NP_001188306.1:p.Ser56Arg | |
| NM_001202404.2:c.250A>C | NP_001189333.2:p.Ser84Arg |