Linked Data
dbSNP Id:
rs766421516
ExAC:
18:50432665 A / G
gnomAD v2:
18-50432665-A-G
gnomAD v4:
18-52906295-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.52906295A>G , CM000680.2:g.52906295A>G | GRCh38 |
| NC_000018.9:g.50432665A>G , CM000680.1:g.50432665A>G | GRCh37 |
| NC_000018.8:g.48686663A>G | NCBI36 |
| NG_013341.1:g.571124A>G | |
| NG_013341.2:g.571124A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442544.7:c.664A>G MANE Select | ENSP00000389140.2:p.Thr222Ala | |
| ENST00000304775.12:c.465A>G | ||
| ENST00000412726.5:c.595A>G | ENSP00000397322.2:p.Thr199Ala | |
| ENST00000442544.6:c.664A>G | ENSP00000389140.2:p.Thr222Ala | |
| NM_005215.3:c.664A>G | NP_005206.2:p.Thr222Ala | |
| XM_011525843.1:c.664A>G | XP_011524145.1:p.Thr222Ala | |
| XM_011525845.1:c.664A>G | XP_011524147.1:p.Thr222Ala | |
| XM_011525846.1:c.664A>G | XP_011524148.1:p.Thr222Ala | |
| XM_017025568.1:c.664A>G | XP_016881057.1:p.Thr222Ala | |
| XM_017025569.1:c.664A>G | XP_016881058.1:p.Thr222Ala | |
| NM_005215.4:c.664A>G MANE Select | NP_005206.2:p.Thr222Ala |