Linked Data
ClinVar Variation Id:
2364689
ClinVar RCV Id:
RCV004201972
dbSNP Id:
rs372800532
ExAC:
15:64388354 A / G
gnomAD v2:
15-64388354-A-G
gnomAD v3:
15-64096155-A-G
gnomAD v4:
15-64096155-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64096155A>G , CM000677.2:g.64096155A>G | GRCh38 |
| NC_000015.9:g.64388354A>G , CM000677.1:g.64388354A>G | GRCh37 |
| NC_000015.8:g.62175407A>G | NCBI36 |
| NG_029708.1:g.5272A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559844.6:c.142A>G MANE Select | ENSP00000453785.1:p.Thr48Ala | |
| ENST00000261889.9:c.142A>G | ENSP00000261889.5:p.Thr48Ala | |
| ENST00000380285.7:c.142A>G | ENSP00000369638.3:p.Thr48Ala | |
| ENST00000558040.5:c.130A>G | ENSP00000452668.1:p.Thr44Ala | |
| ENST00000559061.5:c.-434+1820A>G | ENSP00000452652.1:n.-434+1820A>G | |
| ENST00000559389.1:c.125A>G | ||
| ENST00000559844.5:c.142A>G | ENSP00000453785.1:p.Thr48Ala | |
| ENST00000560260.5:c.142A>G | ENSP00000452759.1:p.Thr48Ala | |
| ENST00000560829.5:c.-354+1820A>G | ENSP00000452651.1:n.-354+1820A>G | |
| ENST00000561026.5:c.142A>G | ENSP00000453567.1:p.Thr48Ala | |
| ENST00000625244.2:c.142A>G | ENSP00000486714.1:p.Thr48Ala | |
| NM_001242933.1:c.142A>G | NP_001229862.1:p.Thr48Ala | |
| NM_003099.4:c.142A>G | NP_003090.2:p.Thr48Ala | |
| NM_148955.3:c.142A>G | NP_683758.1:p.Thr48Ala | |
| XM_005254611.1:c.-316+1820A>G | XP_005254668.1:n.-316+1820A>G | |
| XM_005254611.3:c.-316+1820A>G | XP_005254668.1:n.-316+1820A>G | |
| XR_001751380.1:n.272A>G | ||
| XR_001751381.1:n.272A>G | ||
| NM_003099.5:c.142A>G MANE Select | NP_003090.2:p.Thr48Ala | |
| NM_001242933.2:c.142A>G | NP_001229862.1:p.Thr48Ala | |
| NM_148955.4:c.142A>G | NP_683758.1:p.Thr48Ala |