Linked Data
dbSNP Id:
rs1800437
ExAC:
19:46181392 G / C
gnomAD v2:
19-46181392-G-C
gnomAD v3:
19-45678134-G-C
gnomAD v4:
19-45678134-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45678134G>C , CM000681.2:g.45678134G>C | GRCh38 |
| NC_000019.9:g.46181392G>C , CM000681.1:g.46181392G>C | GRCh37 |
| NC_000019.8:g.50873232G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000590918.6:c.1060G>C MANE Select | ENSP00000467494.1:p.Glu354Gln | |
| ENST00000652180.1:c.877G>C | ENSP00000498426.1:p.Glu293Gln | |
| ENST00000263281.7:c.1060G>C | ENSP00000263281.3:p.Glu354Gln | |
| ENST00000304207.12:c.952G>C | ENSP00000305321.8:p.Glu318Gln | |
| ENST00000585889.1:c.*131G>C | ENSP00000467342.1:n.*131G>C | |
| ENST00000590918.5:c.1060G>C | ENSP00000467494.1:p.Glu354Gln | |
| ENST00000591224.1:n.516G>C | ||
| NM_000164.2:c.1060G>C | NP_000155.1:p.Glu354Gln | |
| NM_000164.3:c.1060G>C | NP_000155.1:p.Glu354Gln | |
| NM_001308418.1:c.952G>C | NP_001295347.1:p.Glu318Gln | |
| XM_011526709.1:c.1186G>C | XP_011525011.1:p.Glu396Gln | |
| XM_011526710.1:c.1186G>C | XP_011525012.1:p.Glu396Gln | |
| XM_011526711.1:c.1078G>C | XP_011525013.1:p.Glu360Gln | |
| XM_011526712.1:c.952G>C | XP_011525014.1:p.Glu318Gln | |
| XM_011526713.1:c.937G>C | XP_011525015.1:p.Glu313Gln | |
| XM_011526714.1:c.769G>C | XP_011525016.1:p.Glu257Gln | |
| XM_011526715.1:c.769G>C | XP_011525017.1:p.Glu257Gln | |
| XR_935791.1:n.1079G>C | ||
| XM_011526709.2:c.1186G>C | XP_011525011.1:p.Glu396Gln | |
| XM_011526710.2:c.1186G>C | XP_011525012.1:p.Glu396Gln | |
| XM_011526711.2:c.1078G>C | XP_011525013.1:p.Glu360Gln | |
| XM_011526713.2:c.937G>C | XP_011525015.1:p.Glu313Gln | |
| XM_011526714.2:c.769G>C | XP_011525016.1:p.Glu257Gln | |
| XM_011526715.2:c.769G>C | XP_011525017.1:p.Glu257Gln | |
| XM_017026584.1:c.715G>C | XP_016882073.1:p.Glu239Gln | |
| XM_017026585.1:c.694G>C | XP_016882074.1:p.Glu232Gln | |
| XM_017026586.1:c.571G>C | XP_016882075.1:p.Glu191Gln | |
| XM_017026587.1:c.568G>C | XP_016882076.1:p.Glu190Gln | |
| XR_001753655.1:n.1155G>C | ||
| XR_935791.2:n.1085G>C | ||
| NM_000164.4:c.1060G>C MANE Select | NP_000155.1:p.Glu354Gln | |
| NM_001308418.2:c.952G>C | NP_001295347.1:p.Glu318Gln |