Linked Data
ClinVar Variation Id:
426363
dbSNP Id:
rs779652673
ExAC:
5:125912832 G / A
gnomAD v2:
5-125912832-G-A
gnomAD v3:
5-126577140-G-A
gnomAD v4:
5-126577140-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126577140G>A , CM000667.2:g.126577140G>A | GRCh38 |
| NC_000005.9:g.125912832G>A , CM000667.1:g.125912832G>A | GRCh37 |
| NC_000005.8:g.125940731G>A | NCBI36 |
| NG_008600.2:g.23251C>T | |
| NG_008600.3:g.23251C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.589C>T MANE Select | ENSP00000387123.3:p.Pro197Ser | |
| ENST00000412186.2:c.465C>T | ENSP00000414536.2:n.465C>T | |
| ENST00000413020.6:c.589C>T | ENSP00000487936.1:p.Pro197Ser | |
| ENST00000458249.6:c.*498C>T | ENSP00000403929.1:n.*498C>T | |
| ENST00000503281.6:c.178C>T | ||
| ENST00000509270.2:c.523C>T | ENSP00000449318.2:p.Pro175Ser | |
| ENST00000509459.6:c.137C>T | ||
| ENST00000511266.6:n.1311C>T | ||
| ENST00000635851.1:c.587C>T | ||
| ENST00000636062.1:n.484C>T | ||
| ENST00000636225.1:c.*398C>T | ENSP00000490797.1:n.*398C>T | |
| ENST00000636286.1:n.307C>T | ||
| ENST00000636743.1:c.469C>T | ENSP00000489725.1:p.Pro157Ser | |
| ENST00000636808.1:c.*398C>T | ENSP00000490833.1:n.*398C>T | |
| ENST00000636872.1:c.749C>T | ENSP00000490919.1:n.749C>T | |
| ENST00000636879.1:c.634C>T | ENSP00000490811.1:p.Pro212Ser | |
| ENST00000636886.1:c.388C>T | ENSP00000490371.1:p.Pro130Ser | |
| ENST00000637206.1:c.589C>T | ENSP00000489895.1:p.Pro197Ser | |
| ENST00000637272.1:c.589C>T | ENSP00000489686.1:p.Pro197Ser | |
| ENST00000637292.1:c.242C>T | ||
| ENST00000637782.1:c.589C>T | ENSP00000490024.1:p.Pro197Ser | |
| ENST00000637964.1:c.535C>T | ENSP00000490291.1:p.Pro179Ser | |
| ENST00000638008.1:c.*531C>T | ENSP00000490400.1:n.*531C>T | |
| ENST00000409134.7:c.589C>T | ENSP00000387123.3:p.Pro197Ser | |
| ENST00000413020.5:c.589C>T | ENSP00000487936.1:p.Pro197Ser | |
| ENST00000433026.5:n.116C>T | ||
| ENST00000447989.6:c.670C>T | ENSP00000414132.2:p.Pro224Ser | |
| ENST00000458249.5:c.749C>T | ENSP00000403929.1:n.749C>T | |
| ENST00000503281.5:c.178C>T | ||
| ENST00000509459.5:c.137C>T | ||
| ENST00000510111.6:c.502C>T | ENSP00000447388.1:p.Pro168Ser | |
| ENST00000511266.5:n.420C>T | ||
| ENST00000553117.5:c.589C>T | ENSP00000448593.1:p.Pro197Ser | |
| NM_001182.4:c.589C>T | NP_001173.2:p.Pro197Ser | |
| NM_001201377.1:c.505C>T | NP_001188306.1:p.Pro169Ser | |
| NM_001202404.1:c.670C>T | NP_001189333.1:p.Pro224Ser | |
| XM_011543417.1:c.184C>T | XP_011541719.1:p.Pro62Ser | |
| XM_011543417.2:c.184C>T | XP_011541719.1:p.Pro62Ser | |
| NM_001182.5:c.589C>T MANE Select | NP_001173.2:p.Pro197Ser | |
| NM_001201377.2:c.505C>T | NP_001188306.1:p.Pro169Ser | |
| NM_001202404.2:c.589C>T | NP_001189333.2:p.Pro197Ser |