Linked Data
ClinVar Variation Id:
290160
dbSNP Id:
rs148135406
ExAC:
X:32328383 C / T
gnomAD v2:
X-32328383-C-T
gnomAD v3:
X-32310266-C-T
gnomAD v4:
X-32310266-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32310266C>T , CM000685.2:g.32310266C>T | GRCh38 |
| NC_000023.10:g.32328383C>T , CM000685.1:g.32328383C>T | GRCh37 |
| NC_000023.9:g.32238304C>T | NCBI36 |
| NG_012232.1:g.1034344G>A , LRG_199:g.1034344G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.779G>A | ENSP00000350765.3:p.Arg260His | |
| ENST00000357033.9:c.5933G>A MANE Select | ENSP00000354923.3:p.Arg1978His | |
| ENST00000619831.5:c.1901G>A | ENSP00000479270.2:p.Arg634His | |
| ENST00000357033.8:c.5933G>A | ENSP00000354923.3:p.Arg1978His | |
| ENST00000378677.6:c.5921G>A | ENSP00000367948.2:p.Arg1974His | |
| ENST00000488902.5:n.336-93203G>A | ||
| ENST00000619831.4:c.5921G>A | ENSP00000479270.1:p.Arg1974His | |
| ENST00000620040.4:c.5933G>A | ENSP00000478150.1:p.Arg1978His | |
| NM_000109.3:c.5909G>A | NP_000100.2:p.Arg1970His | |
| NM_004006.2:c.5933G>A , LRG_199t1:c.5933G>A | NP_003997.1:p.Arg1978His | |
| NM_004009.3:c.5921G>A | NP_004000.1:p.Arg1974His | |
| NM_004010.3:c.5564G>A | NP_004001.1:p.Arg1855His | |
| NM_004011.3:c.1910G>A | NP_004002.2:p.Arg637His | |
| NM_004012.3:c.1901G>A | NP_004003.1:p.Arg634His | |
| XM_006724468.2:c.5933G>A | XP_006724531.1:p.Arg1978His | |
| XM_006724469.2:c.5909G>A | XP_006724532.1:p.Arg1970His | |
| XM_006724470.2:c.5933G>A | XP_006724533.1:p.Arg1978His | |
| XM_006724471.2:c.5933G>A | XP_006724534.1:p.Arg1978His | |
| XM_006724472.2:c.5804G>A | XP_006724535.1:p.Arg1935His | |
| XM_006724473.2:c.5795G>A | XP_006724536.1:p.Arg1932His | |
| XM_006724474.2:c.5933G>A | XP_006724537.1:p.Arg1978His | |
| XM_006724475.2:c.5933G>A | XP_006724538.1:p.Arg1978His | |
| XM_011545467.1:c.5810G>A | XP_011543769.1:p.Arg1937His | |
| XM_011545468.1:c.5933G>A | XP_011543770.1:p.Arg1978His | |
| XM_006724469.3:c.5909G>A | XP_006724532.1:p.Arg1970His | |
| XM_006724470.3:c.5933G>A | XP_006724533.1:p.Arg1978His | |
| XM_006724474.3:c.5933G>A | XP_006724537.1:p.Arg1978His | |
| XM_011545468.2:c.5933G>A | XP_011543770.1:p.Arg1978His | |
| XM_017029328.1:c.5933G>A | XP_016884817.1:p.Arg1978His | |
| XM_017029329.1:c.5933G>A | XP_016884818.1:p.Arg1978His | |
| XM_017029330.2:c.5933G>A | XP_016884819.1:p.Arg1978His | |
| XM_017029331.1:c.107G>A | XP_016884820.1:p.Arg36His | |
| NM_000109.4:c.5909G>A | NP_000100.3:p.Arg1970His | |
| NM_004006.3:c.5933G>A MANE Select | NP_003997.2:p.Arg1978His | |
| NM_004011.4:c.1910G>A | NP_004002.3:p.Arg637His | |
| NM_004012.4:c.1901G>A | NP_004003.2:p.Arg634His |