Linked Data
ClinVar Variation Id:
521856
dbSNP Id:
rs1420939606
gnomAD v2:
14-97347514-G-A
gnomAD v3:
14-96881177-G-A
gnomAD v4:
14-96881177-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96881177G>A , CM000676.2:g.96881177G>A | GRCh38 |
| NC_000014.8:g.97347514G>A , CM000676.1:g.97347514G>A | GRCh37 |
| NC_000014.7:g.96417267G>A | NCBI36 |
| NG_016293.1:g.88831G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216639.8:c.1160G>A MANE Select | ENSP00000216639.3:p.Arg387His | |
| ENST00000553683.2:c.1232G>A | ENSP00000451412.2:p.Ser411Asn | |
| ENST00000555067.2:n.11214G>A | ||
| ENST00000679365.1:c.1150+5057G>A | ENSP00000505882.1:n.1150+5057G>A | |
| ENST00000679462.1:c.1195G>A | ENSP00000506011.1:p.Val399Ile | |
| ENST00000679506.1:n.3219G>A | ||
| ENST00000679533.1:c.*933G>A | ENSP00000505873.1:n.*933G>A | |
| ENST00000679650.1:c.*849G>A | ENSP00000505156.1:n.*849G>A | |
| ENST00000679727.1:c.1154G>A | ENSP00000505844.1:p.Arg385His | |
| ENST00000679758.1:c.1068+20442G>A | ENSP00000505539.1:n.1068+20442G>A | |
| ENST00000679770.1:c.1228G>A | ENSP00000505214.1:p.Val410Ile | |
| ENST00000679816.1:c.1160G>A | ENSP00000506525.1:p.Arg387His | |
| ENST00000679843.1:c.462+5057G>A | ENSP00000506467.1:n.462+5057G>A | |
| ENST00000679903.1:c.1151G>A | ENSP00000506022.1:p.Arg384His | |
| ENST00000679918.1:c.1232G>A | ENSP00000505439.1:p.Ser411Asn | |
| ENST00000679941.1:c.1068+20442G>A | ENSP00000506520.1:n.1068+20442G>A | |
| ENST00000679977.1:c.*406G>A | ENSP00000504897.1:n.*406G>A | |
| ENST00000680007.1:c.1232G>A | ENSP00000505683.1:p.Ser411Asn | |
| ENST00000680335.1:c.1068+20442G>A | ENSP00000505806.1:n.1068+20442G>A | |
| ENST00000680387.1:c.1156+5057G>A | ENSP00000504908.1:n.1156+5057G>A | |
| ENST00000680526.1:c.*587+20513G>A | ENSP00000505595.1:n.*587+20513G>A | |
| ENST00000680538.1:c.1070G>A | ENSP00000505611.1:p.Arg357His | |
| ENST00000680683.1:c.1181G>A | ENSP00000506334.1:p.Gly394Asp | |
| ENST00000680756.1:c.1160G>A | ENSP00000506648.1:p.Arg387His | |
| ENST00000680849.1:c.1157G>A | ENSP00000505602.1:p.Arg386His | |
| ENST00000680851.1:c.1069G>A | ENSP00000505159.1:p.Val357Ile | |
| ENST00000680922.1:c.*212+20442G>A | ENSP00000506480.1:n.*212+20442G>A | |
| ENST00000680993.1:c.*432+20442G>A | ENSP00000505511.1:n.*432+20442G>A | |
| ENST00000681061.1:c.692+20442G>A | ||
| ENST00000681101.1:c.1159+5057G>A | ENSP00000506564.1:n.1159+5057G>A | |
| ENST00000681195.1:c.1157G>A | ENSP00000504933.1:p.Arg386His | |
| ENST00000681249.1:c.1157G>A | ENSP00000506013.1:p.Arg386His | |
| ENST00000681344.1:c.1160G>A | ENSP00000506151.1:p.Arg387His | |
| ENST00000681355.1:c.1160G>A | ENSP00000506214.1:p.Arg387His | |
| ENST00000681363.1:c.*260G>A | ENSP00000505564.1:n.*260G>A | |
| ENST00000681474.1:c.*72G>A | ENSP00000505569.1:n.*72G>A | |
| ENST00000681493.1:c.1154G>A | ENSP00000506429.1:p.Arg385His | |
| ENST00000681524.1:c.*304G>A | ENSP00000505783.1:n.*304G>A | |
| ENST00000681538.1:c.*329G>A | ENSP00000506662.1:n.*329G>A | |
| ENST00000681598.1:c.*537+20442G>A | ENSP00000506128.1:n.*537+20442G>A | |
| ENST00000681677.1:c.783+5057G>A | ||
| ENST00000681695.1:c.*750G>A | ENSP00000506225.1:n.*750G>A | |
| ENST00000681778.1:c.1068+20442G>A | ENSP00000506049.1:n.1068+20442G>A | |
| ENST00000216639.7:c.1160G>A | ENSP00000216639.3:p.Arg387His | |
| ENST00000553683.1:c.165G>A | ||
| ENST00000555067.1:n.390G>A | ||
| ENST00000555402.1:n.185G>A | ||
| ENST00000557222.5:c.637+20442G>A | ||
| NM_003384.2:c.1160G>A | NP_003375.1:p.Arg387His | |
| XM_006720247.2:c.1232G>A | XP_006720310.1:p.Ser411Asn | |
| XM_011537132.1:c.1229G>A | XP_011535434.1:p.Ser410Asn | |
| XM_006720247.4:c.1232G>A | XP_006720310.1:p.Ser411Asn | |
| XM_017021624.2:c.1157G>A | XP_016877113.1:p.Arg386His | |
| XM_017021625.1:c.1166G>A | XP_016877114.1:p.Arg389His | |
| XR_001750539.2:n.1107G>A | ||
| NM_003384.3:c.1160G>A MANE Select | NP_003375.1:p.Arg387His |