Linked Data
ClinVar Variation Id:
858760
dbSNP Id:
rs781149699
ExAC:
3:128628254 G / A
gnomAD v2:
3-128628254-G-A
gnomAD v3:
3-128909411-G-A
gnomAD v4:
3-128909411-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128909411G>A , CM000665.2:g.128909411G>A | GRCh38 |
| NC_000003.11:g.128628254G>A , CM000665.1:g.128628254G>A | GRCh37 |
| NC_000003.10:g.130110944G>A | NCBI36 |
| NG_017064.1:g.34922G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308982.12:c.1553G>A MANE Select | ENSP00000312618.7:p.Arg518His | |
| ENST00000511325.2:n.1631G>A | ||
| ENST00000679399.1:c.*1724G>A | ENSP00000505434.1:n.*1724G>A | |
| ENST00000679431.1:c.*1429G>A | ENSP00000506440.1:n.*1429G>A | |
| ENST00000679613.1:c.1553G>A | ENSP00000504971.1:p.Arg518His | |
| ENST00000679715.1:c.1184G>A | ENSP00000506228.1:p.Arg395His | |
| ENST00000679824.1:c.*2859G>A | ENSP00000505516.1:n.*2859G>A | |
| ENST00000679990.1:n.1788G>A | ||
| ENST00000680636.1:c.1553G>A | ENSP00000504886.1:p.Arg518His | |
| ENST00000680638.1:n.1306G>A | ||
| ENST00000680744.1:c.*906G>A | ENSP00000505243.1:n.*906G>A | |
| ENST00000680764.1:c.*2957G>A | ENSP00000505126.1:n.*2957G>A | |
| ENST00000681319.1:n.2339G>A | ||
| ENST00000681367.1:c.1553G>A | ENSP00000505309.1:p.Arg518His | |
| ENST00000681552.1:c.1150-3096G>A | ENSP00000505699.1:n.1150-3096G>A | |
| ENST00000681583.1:c.1553G>A | ENSP00000506340.1:p.Arg518His | |
| ENST00000681585.1:c.*172G>A | ENSP00000506316.1:n.*172G>A | |
| ENST00000681784.1:n.1631G>A | ||
| ENST00000681886.1:c.*746G>A | ENSP00000506500.1:n.*746G>A | |
| ENST00000308982.11:c.1553G>A | ENSP00000312618.7:p.Arg518His | |
| ENST00000505867.5:c.*1353G>A | ENSP00000425346.1:n.*1353G>A | |
| ENST00000508971.1:c.842G>A | ENSP00000422683.1:p.Arg281His | |
| ENST00000511227.5:c.*1447G>A | ENSP00000425226.1:n.*1447G>A | |
| ENST00000511325.1:n.534G>A | ||
| ENST00000511526.5:n.1086G>A | ||
| NM_014049.4:c.1553G>A | NP_054768.2:p.Arg518His | |
| NR_033426.1:n.1931G>A | ||
| XM_011512742.1:c.1184G>A | XP_011511044.1:p.Arg395His | |
| XM_024453484.1:c.1184G>A | XP_024309252.1:p.Arg395His | |
| XM_024453485.1:c.1184G>A | XP_024309253.1:p.Arg395His | |
| XR_427367.3:n.1629G>A | ||
| NM_014049.5:c.1553G>A MANE Select | NP_054768.2:p.Arg518His | |
| NR_033426.2:n.1801G>A |