Linked Data
dbSNP Id:
rs1557203878
gnomAD v2:
X-49957620-T-C
gnomAD v3:
X-50192969-T-C
gnomAD v4:
X-50192969-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50192969T>C , CM000685.2:g.50192969T>C | GRCh38 |
| NC_000023.10:g.49957620T>C , CM000685.1:g.49957620T>C | GRCh37 |
| NC_000023.9:g.49844360T>C | NCBI36 |
| NG_012552.1:g.13045A>G | |
| NG_012552.2:g.13045A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.1744A>G MANE Select | ENSP00000351327.2:p.Thr582Ala | |
| ENST00000358526.6:c.1744A>G | ENSP00000351327.2:p.Thr582Ala | |
| ENST00000376064.7:c.1717A>G | ENSP00000365232.3:p.Thr573Ala | |
| ENST00000448865.5:c.595A>G | ENSP00000402403.1:p.Thr199Ala | |
| ENST00000481402.5:n.1856A>G | ||
| NM_003886.2:c.1744A>G | NP_003877.2:p.Thr582Ala | |
| NM_139289.1:c.1717A>G | NP_647450.1:p.Thr573Ala | |
| NM_003886.3:c.1744A>G MANE Select | NP_003877.2:p.Thr582Ala | |
| NM_139289.2:c.1717A>G | NP_647450.1:p.Thr573Ala |