Linked Data
dbSNP Id:
rs751414482
ExAC:
6:139694547 A / C
gnomAD v2:
6-139694547-A-C
gnomAD v3:
6-139373410-A-C
gnomAD v4:
6-139373410-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373410A>C , CM000668.2:g.139373410A>C | GRCh38 |
| NC_000006.11:g.139694547A>C , CM000668.1:g.139694547A>C | GRCh37 |
| NC_000006.10:g.139736240A>C | NCBI36 |
| NG_016169.1:g.6239T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.535T>G MANE Select | ENSP00000356623.2:p.Ser179Ala | |
| ENST00000367651.3:c.535T>G | ENSP00000356623.2:p.Ser179Ala | |
| ENST00000536159.2:c.535T>G | ENSP00000442831.1:p.Ser179Ala | |
| ENST00000537332.2:c.550T>G | ENSP00000444198.2:p.Ser184Ala | |
| ENST00000618718.1:c.476+59T>G | ENSP00000479918.1:n.476+59T>G | |
| NM_001168388.2:c.535T>G | NP_001161860.1:p.Ser179Ala | |
| NM_001168389.2:c.550T>G | NP_001161861.2:p.Ser184Ala | |
| NM_006079.4:c.535T>G | NP_006070.2:p.Ser179Ala | |
| NM_006079.5:c.535T>G MANE Select | NP_006070.2:p.Ser179Ala | |
| NM_001168388.3:c.535T>G | NP_001161860.1:p.Ser179Ala | |
| NM_001168389.3:c.550T>G | NP_001161861.2:p.Ser184Ala |