Linked Data
dbSNP Id:
rs2047685720
gnomAD v4:
21-44333211-A-G
MyVariant Identifiers:
chr21:g.45753094A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44333211A>G , CM000683.2:g.44333211A>G | GRCh38 |
| NC_000021.8:g.45753094A>G , CM000683.1:g.45753094A>G | GRCh37 |
| NC_000021.7:g.44577522A>G | NCBI36 |
| NG_032952.1:g.11192T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339818.9:c.195T>C MANE Select | ENSP00000344566.4:p.Ser65= | |
| ENST00000325223.7:c.195T>C | ENSP00000317302.7:p.Ser65= | |
| ENST00000339818.8:c.195T>C | ENSP00000344566.4:p.Ser65= | |
| ENST00000397956.7:c.195T>C | ENSP00000381047.3:p.Ser65= | |
| ENST00000462742.1:n.2366T>C | ||
| ENST00000478674.1:n.254T>C | ||
| ENST00000496321.5:n.311T>C | ||
| NM_001271440.1:c.195T>C | NP_001258369.1:p.Ser65= | |
| NM_001271441.1:c.195T>C | NP_001258370.1:p.Ser65= | |
| NM_001271442.1:c.72T>C | NP_001258371.1:p.Ser24= | |
| NM_004928.2:c.195T>C | NP_004919.1:p.Ser65= | |
| XM_006724051.2:c.270T>C | XP_006724114.1:p.Ser90= | |
| XM_006724052.2:c.270T>C | XP_006724115.1:p.Ser90= | |
| XM_006724053.2:c.-130T>C | XP_006724116.1:n.-130T>C | |
| XR_937571.1:n.398T>C | ||
| XM_006724051.3:c.270T>C | XP_006724114.1:p.Ser90= | |
| XM_006724053.3:c.-130T>C | XP_006724116.1:n.-130T>C | |
| XM_017028470.1:c.399T>C | XP_016883959.1:p.Ser133= | |
| XM_017028471.1:c.144T>C | XP_016883960.1:p.Ser48= | |
| XM_017028472.1:c.-130T>C | XP_016883961.1:n.-130T>C | |
| XR_937571.2:n.405T>C | ||
| NM_004928.3:c.195T>C MANE Select | NP_004919.1:p.Ser65= | |
| NM_001271440.2:c.195T>C | NP_001258369.1:p.Ser65= | |
| NM_001271441.2:c.195T>C | NP_001258370.1:p.Ser65= |