Linked Data
ClinVar Variation Id:
403438
dbSNP Id:
rs61999292
ExAC:
4:77660299 T / G
gnomAD v2:
4-77660299-T-G
gnomAD v3:
4-76739146-T-G
gnomAD v4:
4-76739146-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76739146T>G , CM000666.2:g.76739146T>G | GRCh38 |
| NC_000004.11:g.77660299T>G , CM000666.1:g.77660299T>G | GRCh37 |
| NC_000004.10:g.77879323T>G | NCBI36 |
| NG_028077.1:g.309047T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296043.7:c.973T>G MANE Select | ENSP00000296043.6:p.Ser325Ala | |
| ENST00000646790.1:c.730T>G | ENSP00000494970.1:p.Ser244Ala | |
| ENST00000296043.6:c.973T>G | ENSP00000296043.6:p.Ser325Ala | |
| ENST00000469923.5:n.414+8211T>G | ||
| ENST00000486758.5:n.782T>G | ||
| NM_020859.3:c.973T>G | NP_065910.3:p.Ser325Ala | |
| XM_005263162.3:c.973T>G | XP_005263219.1:p.Ser325Ala | |
| XM_005263163.3:c.445T>G | XP_005263220.1:p.Ser149Ala | |
| XM_005263164.3:c.445T>G | XP_005263221.1:p.Ser149Ala | |
| XM_005263165.3:c.445T>G | XP_005263222.1:p.Ser149Ala | |
| XM_006714282.2:c.868T>G | XP_006714345.1:p.Ser290Ala | |
| XM_011532157.1:c.730T>G | XP_011530459.1:p.Ser244Ala | |
| XM_011532158.1:c.976T>G | XP_011530460.1:p.Ser326Ala | |
| XM_011532159.1:c.976T>G | XP_011530461.1:p.Ser326Ala | |
| XM_011532160.1:c.598T>G | XP_011530462.1:p.Ser200Ala | |
| XM_011532161.1:c.445T>G | XP_011530463.1:p.Ser149Ala | |
| XM_005263163.4:c.445T>G | XP_005263220.1:p.Ser149Ala | |
| XM_005263164.4:c.445T>G | XP_005263221.1:p.Ser149Ala | |
| XM_005263165.5:c.445T>G | XP_005263222.1:p.Ser149Ala | |
| XM_011532157.2:c.991T>G | XP_011530459.2:p.Ser331Ala | |
| XM_011532158.3:c.976T>G | XP_011530460.1:p.Ser326Ala | |
| XM_011532161.2:c.445T>G | XP_011530463.1:p.Ser149Ala | |
| XM_017008488.1:c.871T>G | XP_016863977.1:p.Ser291Ala | |
| XM_017008489.1:c.868T>G | XP_016863978.1:p.Ser290Ala | |
| NM_020859.4:c.973T>G MANE Select | NP_065910.3:p.Ser325Ala |