Linked Data
ClinVar Variation Id:
219413
dbSNP Id:
rs372660425
ExAC:
5:125912837 T / C
gnomAD v2:
5-125912837-T-C
gnomAD v3:
5-126577145-T-C
gnomAD v4:
5-126577145-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126577145T>C , CM000667.2:g.126577145T>C | GRCh38 |
| NC_000005.9:g.125912837T>C , CM000667.1:g.125912837T>C | GRCh37 |
| NC_000005.8:g.125940736T>C | NCBI36 |
| NG_008600.2:g.23246A>G | |
| NG_008600.3:g.23246A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.584A>G MANE Select | ENSP00000387123.3:p.Asn195Ser | |
| ENST00000412186.2:c.460A>G | ENSP00000414536.2:n.460A>G | |
| ENST00000413020.6:c.584A>G | ENSP00000487936.1:p.Asn195Ser | |
| ENST00000458249.6:c.*493A>G | ENSP00000403929.1:n.*493A>G | |
| ENST00000503281.6:c.173A>G | ||
| ENST00000509270.2:c.518A>G | ENSP00000449318.2:p.Asn173Ser | |
| ENST00000509459.6:c.132A>G | ||
| ENST00000511266.6:n.1306A>G | ||
| ENST00000635851.1:c.582A>G | ||
| ENST00000636062.1:n.479A>G | ||
| ENST00000636225.1:c.*393A>G | ENSP00000490797.1:n.*393A>G | |
| ENST00000636286.1:n.302A>G | ||
| ENST00000636743.1:c.464A>G | ENSP00000489725.1:p.Asn155Ser | |
| ENST00000636808.1:c.*393A>G | ENSP00000490833.1:n.*393A>G | |
| ENST00000636872.1:c.744A>G | ENSP00000490919.1:n.744A>G | |
| ENST00000636879.1:c.629A>G | ENSP00000490811.1:p.Asn210Ser | |
| ENST00000636886.1:c.383A>G | ENSP00000490371.1:p.Asn128Ser | |
| ENST00000637206.1:c.584A>G | ENSP00000489895.1:p.Asn195Ser | |
| ENST00000637272.1:c.584A>G | ENSP00000489686.1:p.Asn195Ser | |
| ENST00000637292.1:c.237A>G | ||
| ENST00000637782.1:c.584A>G | ENSP00000490024.1:p.Asn195Ser | |
| ENST00000637964.1:c.530A>G | ENSP00000490291.1:p.Asn177Ser | |
| ENST00000638008.1:c.*526A>G | ENSP00000490400.1:n.*526A>G | |
| ENST00000409134.7:c.584A>G | ENSP00000387123.3:p.Asn195Ser | |
| ENST00000413020.5:c.584A>G | ENSP00000487936.1:p.Asn195Ser | |
| ENST00000433026.5:n.111A>G | ||
| ENST00000447989.6:c.665A>G | ENSP00000414132.2:p.Asn222Ser | |
| ENST00000458249.5:c.744A>G | ENSP00000403929.1:n.744A>G | |
| ENST00000503281.5:c.173A>G | ||
| ENST00000509459.5:c.132A>G | ||
| ENST00000510111.6:c.497A>G | ENSP00000447388.1:p.Asn166Ser | |
| ENST00000511266.5:n.415A>G | ||
| ENST00000553117.5:c.584A>G | ENSP00000448593.1:p.Asn195Ser | |
| NM_001182.4:c.584A>G | NP_001173.2:p.Asn195Ser | |
| NM_001201377.1:c.500A>G | NP_001188306.1:p.Asn167Ser | |
| NM_001202404.1:c.665A>G | NP_001189333.1:p.Asn222Ser | |
| XM_011543417.1:c.179A>G | XP_011541719.1:p.Asn60Ser | |
| XM_011543417.2:c.179A>G | XP_011541719.1:p.Asn60Ser | |
| NM_001182.5:c.584A>G MANE Select | NP_001173.2:p.Asn195Ser | |
| NM_001201377.2:c.500A>G | NP_001188306.1:p.Asn167Ser | |
| NM_001202404.2:c.584A>G | NP_001189333.2:p.Asn195Ser |